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<meta name="keywords" content="C3887611, feeling of restlessness, fidgetiness, restiveness, restless, restlessness, restlessness behavior, sign or symptom, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=854457
ConceptID=C3887611
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Restlessness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854457</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3887611</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Feeling of Restlessness; Fidgetiness; Restiveness; Restless; Restlessness behavior</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Restlessness (162221009); Restlessness behavior (162221009)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000711">HP:0000711</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Restlessness</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1056192" ref="tree=MeSH" title="MedGen record for Abnormal affect">Abnormal affect</a></span><ul><li><span class="TLline"><a href="/medgen/1053648" ref="tree=MeSH" title="MedGen record for Abnormal volitional state">Abnormal volitional state</a></span><ul><li><span class="TLline"><a href="/medgen/1853215" ref="tree=MeSH" title="MedGen record for Abnormally increased volition">Abnormally increased volition</a></span><ul><li><span class="matched_ds">Restlessness</span><ul><li><span class="TLline"><a href="/medgen/858352" ref="tree=MeSH" title="MedGen record for Inner Restlessness">Inner Restlessness</a></span></li><li><span class="TLline"><a href="/medgen/675108" ref="tree=MeSH" title="MedGen record for Motor restlessness">Motor restlessness</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_88602"><div><strong>Mucopolysaccharidosis, MPS-III-D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88602</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0086650</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/88602">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82818"><div><strong>Hyperglycinemia, transient neonatal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82818</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268560</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82818">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162911"><div><strong>Primrose syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162911</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796121</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162911">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163232"><div><strong>X-linked intellectual disability-psychosis-macroorchidism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163232</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796222</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163232">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163235"><div><strong>Intellectual disability, X-linked 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163235</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796237</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163235">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318833"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318833</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1833296</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318833">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335139"><div><strong>Syndromic X-linked intellectual disability Claes-Jensen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335139</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845243</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335139">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375796"><div><strong>Hereditary spastic paraplegia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375796</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1846046</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).&#13; A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).&#13; For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375796">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376379"><div><strong>Pontocerebellar hypoplasia type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376379</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848526</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376379">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355137"><div><strong>Huntington disease-like 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355137</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1864112</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355137">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355328"><div><strong>Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355328</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1864923</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355328">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436765"><div><strong>Chromosome 2q32-q33 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436765</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2676739</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SATB2-associated syndrome (SAS) is a multisystem disorder in which all affected individuals have developmental delay / intellectual disability that can range from mild to profound but is most commonly moderate to profound. Speech delay and/or absent speech is observed in all affected individuals. Other neurobehavioral manifestations can include jovial or friendly personality, autistic tendencies, agitation or aggressive outbursts, self-injury, impulsivity, hyperactivity, anxiety, difficulty falling asleep or maintaining sleep, and sensory issues. Most affected individuals have hypotonia. EEG abnormalities are frequent but may be without clinically recognizable seizures. While only about 20% of affected individuals have clinical seizures, a subset of affected individuals have electrical status epilepticus in sleep. Craniofacial findings can include nonspecific dysmorphic features, palatal anomalies (cleft palate, high-arched palate, velopharyngeal insufficiency, bifid uvula), and dental anomalies (abnormal shape or size or the upper central incisors, dental crowding, hypodontia, and delayed teeth eruption, among others). Skeletal anomalies can include scoliosis, tibial bowing, and joint contractures. At least one third of individuals have a history of previous fractures and about one quarter of affected individuals have documented low bone mineral density. Other finding can include pre- and postnatal growth restriction, feeding issues, and eye anomalies (strabismus, refractive error). In those with a larger deletion involving SATB2 and adjacent genes, cardiovascular, genitourinary, and ectodermal findings may also be present.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436765">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419319"><div><strong>Hawkinsinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419319</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931042</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419319">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_781653"><div><strong>HSD10 mitochondrial disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781653</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3266731</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">HSD10 mitochondrial disease (HSD10MD) most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; Zschocke, 2012).&#13; In a review of this disorder, Zschocke (2012) noted that although it was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/781653">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482290"><div><strong>Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482290</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3280660</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016).&#13; Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission&#13; See also EMPF2 (617086), caused by mutation in the MFF gene (614785) on chromosome 2q36.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482290">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766992"><div><strong>Branched-chain keto acid dehydrogenase kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766992</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554078</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766992">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767363"><div><strong>Severe intellectual disability-progressive spastic diplegia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767363</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554449</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767363">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767521"><div><strong>Mitochondrial complex III deficiency nuclear type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767521</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554607</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Most people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.\n\nMitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.\n\nThe severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. \n\nMitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767521">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934642"><div><strong>Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934642</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310675</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).&#13; Genetic Heterogeneity of PEBEL&#13; See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934642">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1681654"><div><strong>Developmental and epileptic encephalopathy, 73</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681654</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193065</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-73 (DEE73) is a neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals meet almost no developmental milestones: they have hypotonia and are unable to walk, speak, or feed properly. They have poor overall growth with small head circumference and dysmorphic facial features. Additional manifestations include cortical visual impairment with roving eye movements and variable hearing loss (summary by Edvardson et al., 2019).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1681654">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794189"><div><strong>Neurodevelopmental disorder with seizures and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794189</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561979</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794189">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1857802"><div><strong>Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857802</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935590</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1857802">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_989503"><div><strong>Congenital disorder of deglycosylation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989503</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN306977</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/989503">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branched-chain keto acid dehydrogenase kinase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 2q32-q33 deletion syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 73</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hawkinsinuria</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 16</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_781653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HSD10 mitochondrial disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Huntington disease-like 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperglycinemia, transient neonatal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 30</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex III deficiency nuclear type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_88602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-III-D</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures and brain abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 2A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primrose syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe intellectual disability-progressive spastic diplegia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Claes-Jensen type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-psychosis-macroorchidism syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36651686">Adverse Effects of Antidepressant Medications and their Management in Children and Adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strawn JR,
Mills JA,
Poweleit EA,
Ramsey LB,
Croarkin PE</span><br />
<span class="medgenPMjournal">Pharmacotherapy</span>
2023 Jul;43(7):675-690.
Epub 2023 Jan 27
doi: 10.1002/phar.2767.
<span class="bold">PMID: </span><a href="/pubmed/36651686" target="_blank">36651686</a><a href="/pmc/articles/PMC10378577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29174963">Diagnosis, pathophysiology, and management of cluster headache.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffmann J,
May A</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2018 Jan;17(1):75-83.
Epub 2017 Nov 23
doi: 10.1016/S1474-4422(17)30405-2.
<span class="bold">PMID: </span><a href="/pubmed/29174963" target="_blank">29174963</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28439845">A Systematic Review of the Clinical Presentation, Diagnosis, and Treatment of Small Bowel Obstruction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rami Reddy SR,
Cappell MS</span><br />
<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
2017 Jun;19(6):28.
doi: 10.1007/s11894-017-0566-9.
<span class="bold">PMID: </span><a href="/pubmed/28439845" target="_blank">28439845</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22restlessness%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (176)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35564810">Associations between Bruxism, Stress, and Manifestations of Temporomandibular Disorder in Young Students.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vlăduțu D,
Popescu SM,
Mercuț R,
Ionescu M,
Scrieciu M,
Glodeanu AD,
Stănuși A,
Rîcă AM,
Mercuț V</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2022 Apr 29;19(9)
doi: 10.3390/ijerph19095415.
<span class="bold">PMID: </span><a href="/pubmed/35564810" target="_blank">35564810</a><a href="/pmc/articles/PMC9102407" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32097927">Morbidity and Mortality of Hyponatremia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peri A</span><br />
<span class="medgenPMjournal">Front Horm Res</span>
2019;52:36-48.
Epub 2019 Jan 15
doi: 10.1159/000493235.
<span class="bold">PMID: </span><a href="/pubmed/32097927" target="_blank">32097927</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30934083">Generalized Anxiety Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeMartini J,
Patel G,
Fancher TL</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2019 Apr 2;170(7):ITC49-ITC64.
doi: 10.7326/AITC201904020.
<span class="bold">PMID: </span><a href="/pubmed/30934083" target="_blank">30934083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30806999">Anxiety Disorders in Older Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pary R,
Sarai SK,
Micchelli A,
Lippmann S</span><br />
<span class="medgenPMjournal">Prim Care Companion CNS Disord</span>
2019 Jan 31;21(1)
doi: 10.4088/PCC.18nr02335.
<span class="bold">PMID: </span><a href="/pubmed/30806999" target="_blank">30806999</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12938785">Generalized anxiety disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pary R,
Matuschka PR,
Lewis S,
Caso W,
Lippmann S</span><br />
<span class="medgenPMjournal">South Med J</span>
2003 Jun;96(6):581-6.
doi: 10.1097/01.smj.0000054499.21994.a5.
<span class="bold">PMID: </span><a href="/pubmed/12938785" target="_blank">12938785</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Restlessness%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1079)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34043900">Cannabis and cannabinoid use in autism spectrum disorder: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva EAD Junior,
Medeiros WMB,
Torro N,
Sousa JMM,
Almeida IBCM,
Costa FBD,
Pontes KM,
Nunes ELG,
Rosa MDD,
Albuquerque KLGD</span><br />
<span class="medgenPMjournal">Trends Psychiatry Psychother</span>
2022 Jun 13;44:e20200149.
doi: 10.47626/2237-6089-2020-0149.
<span class="bold">PMID: </span><a href="/pubmed/34043900" target="_blank">34043900</a><a href="/pmc/articles/PMC9887656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30934083">Generalized Anxiety Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeMartini J,
Patel G,
Fancher TL</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2019 Apr 2;170(7):ITC49-ITC64.
doi: 10.7326/AITC201904020.
<span class="bold">PMID: </span><a href="/pubmed/30934083" target="_blank">30934083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29174963">Diagnosis, pathophysiology, and management of cluster headache.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffmann J,
May A</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2018 Jan;17(1):75-83.
Epub 2017 Nov 23
doi: 10.1016/S1474-4422(17)30405-2.
<span class="bold">PMID: </span><a href="/pubmed/29174963" target="_blank">29174963</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24755895">Menopause and sleep.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Freedman RR</span><br />
<span class="medgenPMjournal">Menopause</span>
2014 May;21(5):534-5.
doi: 10.1097/GME.0000000000000243.
<span class="bold">PMID: </span><a href="/pubmed/24755895" target="_blank">24755895</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12938785">Generalized anxiety disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pary R,
Matuschka PR,
Lewis S,
Caso W,
Lippmann S</span><br />
<span class="medgenPMjournal">South Med J</span>
2003 Jun;96(6):581-6.
doi: 10.1097/01.smj.0000054499.21994.a5.
<span class="bold">PMID: </span><a href="/pubmed/12938785" target="_blank">12938785</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Restlessness%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (901)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36651686">Adverse Effects of Antidepressant Medications and their Management in Children and Adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strawn JR,
Mills JA,
Poweleit EA,
Ramsey LB,
Croarkin PE</span><br />
<span class="medgenPMjournal">Pharmacotherapy</span>
2023 Jul;43(7):675-690.
Epub 2023 Jan 27
doi: 10.1002/phar.2767.
<span class="bold">PMID: </span><a href="/pubmed/36651686" target="_blank">36651686</a><a href="/pmc/articles/PMC10378577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34043900">Cannabis and cannabinoid use in autism spectrum disorder: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva EAD Junior,
Medeiros WMB,
Torro N,
Sousa JMM,
Almeida IBCM,
Costa FBD,
Pontes KM,
Nunes ELG,
Rosa MDD,
Albuquerque KLGD</span><br />
<span class="medgenPMjournal">Trends Psychiatry Psychother</span>
2022 Jun 13;44:e20200149.
doi: 10.47626/2237-6089-2020-0149.
<span class="bold">PMID: </span><a href="/pubmed/34043900" target="_blank">34043900</a><a href="/pmc/articles/PMC9887656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33626254">Muscarinic Cholinergic Receptor Agonist and Peripheral Antagonist for Schizophrenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brannan SK,
Sawchak S,
Miller AC,
Lieberman JA,
Paul SM,
Breier A</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Feb 25;384(8):717-726.
doi: 10.1056/NEJMoa2017015.
<span class="bold">PMID: </span><a href="/pubmed/33626254" target="_blank">33626254</a><a href="/pmc/articles/PMC7610870" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30934083">Generalized Anxiety Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeMartini J,
Patel G,
Fancher TL</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2019 Apr 2;170(7):ITC49-ITC64.
doi: 10.7326/AITC201904020.
<span class="bold">PMID: </span><a href="/pubmed/30934083" target="_blank">30934083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11452680">Motor restlessness.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan EK,
Ondo WG</span><br />
<span class="medgenPMjournal">Int J Clin Pract</span>
2001 Jun;55(5):320-2.
<span class="bold">PMID: </span><a href="/pubmed/11452680" target="_blank">11452680</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Restlessness%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1277)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36651686">Adverse Effects of Antidepressant Medications and their Management in Children and Adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strawn JR,
Mills JA,
Poweleit EA,
Ramsey LB,
Croarkin PE</span><br />
<span class="medgenPMjournal">Pharmacotherapy</span>
2023 Jul;43(7):675-690.
Epub 2023 Jan 27
doi: 10.1002/phar.2767.
<span class="bold">PMID: </span><a href="/pubmed/36651686" target="_blank">36651686</a><a href="/pmc/articles/PMC10378577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28886752">Protocol for the management of psychiatric patients with psychomotor agitation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vieta E,
Garriga M,
Cardete L,
Bernardo M,
Lombraña M,
Blanch J,
Catalán R,
Vázquez M,
Soler V,
Ortuño N,
Martínez-Arán A</span><br />
<span class="medgenPMjournal">BMC Psychiatry</span>
2017 Sep 8;17(1):328.
doi: 10.1186/s12888-017-1490-0.
<span class="bold">PMID: </span><a href="/pubmed/28886752" target="_blank">28886752</a><a href="/pmc/articles/PMC5591519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22610775">Neonatal abstinence syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mishra KK,
Chopra N,
Dudeja A,
Datta V,
Saili A,
Dutta AK</span><br />
<span class="medgenPMjournal">Kathmandu Univ Med J (KUMJ)</span>
2010 Oct-Dec;8(32):426-8.
doi: 10.3126/kumj.v8i4.6245.
<span class="bold">PMID: </span><a href="/pubmed/22610775" target="_blank">22610775</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17174708">Generalised anxiety disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tyrer P,
Baldwin D</span><br />
<span class="medgenPMjournal">Lancet</span>
2006 Dec 16;368(9553):2156-66.
doi: 10.1016/S0140-6736(06)69865-6.
<span class="bold">PMID: </span><a href="/pubmed/17174708" target="_blank">17174708</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10637938">Psychotic symptoms, aggression and restlessness in dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ballard C,
Gray A,
Ayre G</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
1999;155 Suppl 4:S44-52.
<span class="bold">PMID: </span><a href="/pubmed/10637938" target="_blank">10637938</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Restlessness%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (412)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39371381">Infancy Urogenital Myiasis: A Case Report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadi E,
Abtahi M,
Manouchehri P,
Saberi T,
Saberi S</span><br />
<span class="medgenPMjournal">Iran J Med Sci</span>
2024 Sep;49(9):604-607.
Epub 2024 Sep 1
doi: 10.30476/ijms.2024.102202.3497.
<span class="bold">PMID: </span><a href="/pubmed/39371381" target="_blank">39371381</a><a href="/pmc/articles/PMC11452590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38123926">Parents' Knowledge and Attitudes Regarding Teething Signs and Symptoms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alpayçetin E,
Karaduran B,
Baysan C,
Koruyucu M,
Nce EBT</span><br />
<span class="medgenPMjournal">J Dent Child (Chic)</span>
2023 Nov 15;90(3):164-167.
<span class="bold">PMID: </span><a href="/pubmed/38123926" target="_blank">38123926</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37083664">Efficacy and Safety of Esketamine for Supplemental Analgesia During Elective Cesarean Delivery: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xu LL,
Wang C,
Deng CM,
Dai SB,
Zhou Q,
Peng YB,
Shou HY,
Han YQ,
Yu J,
Liu CH,
Xia F,
Zhang SQ,
Wang DX,
Chen XZ</span><br />
<span class="medgenPMjournal">JAMA Netw Open</span>
2023 Apr 3;6(4):e239321.
doi: 10.1001/jamanetworkopen.2023.9321.
<span class="bold">PMID: </span><a href="/pubmed/37083664" target="_blank">37083664</a><a href="/pmc/articles/PMC10122167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34842953">How important urolithiasis is under 2 years of age?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Çaltik Yilmaz A,
Ünal N,
Çelebi Tayfur A,
Büyükkaragöz B</span><br />
<span class="medgenPMjournal">Urolithiasis</span>
2022 Apr;50(2):159-165.
Epub 2021 Nov 29
doi: 10.1007/s00240-021-01295-x.
<span class="bold">PMID: </span><a href="/pubmed/34842953" target="_blank">34842953</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brannan SK,
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Lieberman JA,
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doi: 10.1056/NEJMoa2017015.
<span class="bold">PMID: </span><a href="/pubmed/33626254" target="_blank">33626254</a><a href="/pmc/articles/PMC7610870" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Restlessness%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (815)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37566261">Efficacy and Safety of Aripiprazole in Borderline Personality Disorder: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valdivieso-Jiménez G,
Pino-Zavaleta DA,
Campos-Rodriguez SK,
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Epub 2023 Aug 11
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<span class="bold">PMID: </span><a href="/pubmed/37566261" target="_blank">37566261</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34043900">Cannabis and cannabinoid use in autism spectrum disorder: a systematic review.</a></div>
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Almeida IBCM,
Costa FBD,
Pontes KM,
Nunes ELG,
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Albuquerque KLGD</span><br />
<span class="medgenPMjournal">Trends Psychiatry Psychother</span>
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<span class="bold">PMID: </span><a href="/pubmed/34043900" target="_blank">34043900</a><a href="/pmc/articles/PMC9887656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33211984">Energy Drinks and Their Adverse Health Effects: A Systematic Review and Meta-analysis.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Restlessness%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (75)</a></div></div>
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