Literature DB >> 9586771

Autism in tuberous sclerosis complex.

G C Gutierrez1, S L Smalley, P E Tanguay.   

Abstract

The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.

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Mesh:

Year:  1998        PMID: 9586771     DOI: 10.1023/a:1026032413811

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


  23 in total

1.  Biological liability in families with autism.

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2.  Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

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Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

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Journal:  Dev Med Child Neurol       Date:  1990-03       Impact factor: 5.449

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Authors:  C Chiron; O Dulac; D Beaumont; L Palacios; N Pajot; J Mumford
Journal:  J Child Neurol       Date:  1991       Impact factor: 1.987

5.  Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

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Journal:  Nat Genet       Date:  1992-09       Impact factor: 38.330

6.  Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders.

Authors:  C Lord; M Rutter; A Le Couteur
Journal:  J Autism Dev Disord       Date:  1994-10

7.  Phenotypic variation of tuberous sclerosis in a single extended kindred.

Authors:  S L Smalley; F Burger; M Smith
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

8.  Identification and characterization of the tuberous sclerosis gene on chromosome 16.

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Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

Review 9.  Treatment of infantile spasms.

Authors:  S T Haines; D T Casto
Journal:  Ann Pharmacother       Date:  1994-06       Impact factor: 3.154

10.  Autism diagnostic observation schedule: a standardized observation of communicative and social behavior.

Authors:  C Lord; M Rutter; S Goode; J Heemsbergen; H Jordan; L Mawhood; E Schopler
Journal:  J Autism Dev Disord       Date:  1989-06
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  21 in total

1.  Resting and task-modulated high-frequency brain rhythms measured by scalp encephalography in infants with tuberous sclerosis complex.

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Journal:  J Autism Dev Disord       Date:  2015-02

Review 2.  The power and promise of identifying autism early: insights from the search for clinical and biological markers.

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Authors:  Muideen O Bakare; Kerim M Munir; Dennis K Kinney
Journal:  Hypothesis (Macon)       Date:  2011-04-16

Review 4.  Potential for treatment of severe autism in tuberous sclerosis complex.

Authors:  Tanjala T Gipson; Gwendolyn Gerner; Mary Ann Wilson; Mary E Blue; Michael V Johnston
Journal:  World J Clin Pediatr       Date:  2013-08-08

5.  Association of hypomelanotic skin disorders with autism: links to possible etiologic role of vitamin-D levels in autism?

Authors:  Muideen O Bakare; Kerim M Munir; Dennis K Kinney
Journal:  Hypothesis (Tor)       Date:  2011-09

Review 6.  Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops.

Authors:  Caitlin Mullins; Gord Fishell; Richard W Tsien
Journal:  Neuron       Date:  2016-03-16       Impact factor: 17.173

7.  Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.

Authors:  Agnies M van Eeghen; Margaret B Pulsifer; Vanessa L Merker; Ann M Neumeyer; Elmer E van Eeghen; Ronald L Thibert; Andrew J Cole; Fawn A Leigh; Scott R Plotkin; Elizabeth A Thiele
Journal:  Dev Med Child Neurol       Date:  2012-12-04       Impact factor: 5.449

8.  Autism and phenylketonuria.

Authors:  Sabrina Baieli; Lorenzo Pavone; Concetta Meli; Agata Fiumara; Mary Coleman
Journal:  J Autism Dev Disord       Date:  2003-04

Review 9.  Autism and tuberous sclerosis.

Authors:  S L Smalley
Journal:  J Autism Dev Disord       Date:  1998-10

10.  Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Authors:  Simon G Gregory; Jessica J Connelly; Aaron J Towers; Jessica Johnson; Dhani Biscocho; Christina A Markunas; Carla Lintas; Ruth K Abramson; Harry H Wright; Peter Ellis; Cordelia F Langford; Gordon Worley; G Robert Delong; Susan K Murphy; Michael L Cuccaro; Antonello Persico; Margaret A Pericak-Vance
Journal:  BMC Med       Date:  2009-10-22       Impact factor: 8.775

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