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Article: Study of the relationship between tuberous sclerosis complex and autistic disorder

TitleStudy of the relationship between tuberous sclerosis complex and autistic disorder
Authors
Issue Date2006
PublisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
Citation
Journal Of Child Neurology, 2006, v. 21 n. 3, p. 199-204 How to Cite?
AbstractThere has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknown. We studied two cohorts of children followed up since 1986 until 2003, one cohort with tuberous sclerosis complex and another cohort with autistic disorder, to determine the incidence of autistic disorder in tuberous sclerosis complex and the incidence of tuberous sclerosis complex in autistic disorder respectively. We established a Tuberous Sclerosis Complex Registry in 1985 at the University of Hong Kong. In 2004, 44 index cases (the male to female ratio was 0.75:1) were registered. Three had a positive family history of tuberous sclerosis complex. Thus, the total number of tuberous sclerosis complex cases was 47. We adopted the diagnostic criteria of tuberous sclerosis complex for case ascertainment. The period prevalence rate of tuberous sclerosis complex for children and adolescents aged < 20 years is 3.5 per 10,000 (on Hong Kong island, excluding the eastern region with 125,100 aged < 20 years in 2003). Of 44 cases with tuberous sclerosis complex, 7 had autistic disorder. Thus, the incidence of autistic disorder in tuberous sclerosis complex is 16%. During the 17-year period (1986-2003), we collected a database of 753 children (668 boys and 84 girls; male to female ratio 8:1) with autistic disorder and pervasive developmental disorders. For all children with autistic disorder or pervasive developmental disorders, we routinely examined for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots, which appear in 50% of children with tuberous sclerosis complex by the age of 2 years. For those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, seven had tuberous sclerosis complex. Thus, the incidence of tuberous sclerosis complex in autistic disorder is 0.9%. All of these children are mentally retarded, with moderate to severe grades in an intellectual assessment conducted by a clinical psychologist. Future studies should be directed toward looking at the various behavioral phenotypes in tuberous sclerosis complex and defining these with standardized criteria to look for any real association with the underlying genetic mutation of TSC1 or TSC2 gene or even the site of tubers in the brain.
Persistent Identifierhttp://hdl.handle.net/10722/143528
ISSN
2015 Impact Factor: 1.434
2015 SCImago Journal Rankings: 0.694
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWong, Ven_HK
dc.date.accessioned2011-12-12T03:51:32Z-
dc.date.available2011-12-12T03:51:32Z-
dc.date.issued2006en_HK
dc.identifier.citationJournal Of Child Neurology, 2006, v. 21 n. 3, p. 199-204en_HK
dc.identifier.issn0883-0738en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143528-
dc.description.abstractThere has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknown. We studied two cohorts of children followed up since 1986 until 2003, one cohort with tuberous sclerosis complex and another cohort with autistic disorder, to determine the incidence of autistic disorder in tuberous sclerosis complex and the incidence of tuberous sclerosis complex in autistic disorder respectively. We established a Tuberous Sclerosis Complex Registry in 1985 at the University of Hong Kong. In 2004, 44 index cases (the male to female ratio was 0.75:1) were registered. Three had a positive family history of tuberous sclerosis complex. Thus, the total number of tuberous sclerosis complex cases was 47. We adopted the diagnostic criteria of tuberous sclerosis complex for case ascertainment. The period prevalence rate of tuberous sclerosis complex for children and adolescents aged < 20 years is 3.5 per 10,000 (on Hong Kong island, excluding the eastern region with 125,100 aged < 20 years in 2003). Of 44 cases with tuberous sclerosis complex, 7 had autistic disorder. Thus, the incidence of autistic disorder in tuberous sclerosis complex is 16%. During the 17-year period (1986-2003), we collected a database of 753 children (668 boys and 84 girls; male to female ratio 8:1) with autistic disorder and pervasive developmental disorders. For all children with autistic disorder or pervasive developmental disorders, we routinely examined for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots, which appear in 50% of children with tuberous sclerosis complex by the age of 2 years. For those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, seven had tuberous sclerosis complex. Thus, the incidence of tuberous sclerosis complex in autistic disorder is 0.9%. All of these children are mentally retarded, with moderate to severe grades in an intellectual assessment conducted by a clinical psychologist. Future studies should be directed toward looking at the various behavioral phenotypes in tuberous sclerosis complex and defining these with standardized criteria to look for any real association with the underlying genetic mutation of TSC1 or TSC2 gene or even the site of tubers in the brain.en_HK
dc.languageengen_US
dc.publisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.comen_HK
dc.relation.ispartofJournal of Child Neurologyen_HK
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAutistic Disorder/*epidemiologyen_US
dc.subject.meshChilden_US
dc.subject.meshCohort Studiesen_US
dc.subject.meshComorbidityen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-Up Studiesen_US
dc.subject.meshHong Kong/epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshIncidenceen_US
dc.subject.meshMaleen_US
dc.subject.meshRegistriesen_US
dc.subject.meshTuberous Sclerosis/*epidemiologyen_US
dc.titleStudy of the relationship between tuberous sclerosis complex and autistic disorderen_HK
dc.typeArticleen_HK
dc.identifier.emailWong, V:vcnwong@hku.hken_HK
dc.identifier.authorityWong, V=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid16901420-
dc.identifier.scopuseid_2-s2.0-33745124709en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33745124709&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume21en_HK
dc.identifier.issue3en_HK
dc.identifier.spage199en_HK
dc.identifier.epage204en_HK
dc.identifier.isiWOS:000238002500005-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWong, V=7202525632en_HK

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