What is Autism?
Genetic Conditions Associated with Autistic Disorder

References:

  1. Bailey A, Bolton P, Butler L, Le Couteur A, Murphy M, Scott S, Webb T, Rutter M (1993) Prevalence of the fragile X anomaly amongst autistic twins and singletons. J Child Psychol Psychiat 34: 673-688.


  2. Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA (2003) Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 28: 205-11.


  3. de Vries BBA, van den Ouweland AMW, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJJ, Sandkuijl LA, Oostra BA, Tibben A, Niermerijer MF (1997) Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am J Hum Genet 61: 660-667.


  4. Filipek PA, Accardo PJ, Ashwal S, Baranek, G T, Cook EH Jr, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, Volkmar FR (2000) Practice parameter: Screening and diagnosis of autism. Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55: 468-479.


  5. Fombonne E, Du Mazaubrun C, Cans C, Grandjean H (1997) Autism and associated medical disorders in a French epidemiological survey. J Am Acad Child Adolesc Psychiatry 36: 1561-1569.


  6. Gaffney GR, Tsai LY (1987) Magnetic resonance imaging of high level autism. J Autism Dev Disord 17: 433-438.


  7. Gillberg C, Forsell C (1984) Childhood psychosis and neurofibromatosis – more than a coincidence? J Autism Dev Disord 14: 1-8.


  8. Gillberg C (1991) The treatment of epilepsy in autism. J Autism Dev Disord 21: 61-77.


  9. Gillberg C, Coleman M (1996) Autism and medical disorders: a review of the literature. Dev Med Child Neurol 38: 191-202.


  10. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (2002) Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30: 365-366.


  11. Mouridsen SE, Andersen LB, Sorensen SA, Rich B, Isager T (1992) Neurofibromatosis in infantile autism and other types of childhood psychoses. Acta Paedopsychiatr 55: 15-18.


  12. Olsson I, Steffenburg S, Gillberg C (1988) Epilepsy in autism and autistic like conditions. A population-based study. Arch Neurol 45: 666-668.


  13. Ritvo ER, Mason Brothers A, Freeman BJ , Pingree C, Jenson WR, McMahon WM, Petersen PB, Jorde LB, Mo A, Ritvo A (1990) The UCLA-University of Utah epidemiologic survey of autism: the aetiologic role of rare diseases. Am J Psychiatry 147: 1614-1621.


  14. Rutter M, Bailey A, Bolton P, Le Couteur A (1994) Autism and known medical conditions: myth and substance. J Child Psychol Psychiatry 35: 311-322.


  15. Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M (1996) Autism in Angelman syndrome: a population-based study. Pediatr Neurol 14: 131-136.


  16. Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI (2001) Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 98: 191-200.


  17. Turner G, Webb T, Wake S, Robinson H (1996) Prevalence of fragile X syndrome. Am J Med Genet 64: 196-7.


  18. Zapella M (1990) Autistic features in children affected by cerebral gigantism. Brain Dysfunction 3: 241-244.


Autistic Disorder
Autistic disorder is a developmental disorder that affects a person's ability to communicate, form relationships with others, and respond appropriately to the environment. Some people with autistic disorder are high functioning, with speech and intelligence intact. Others may be nonverbal and/or mentally retarded.

Asperger Disorder
Asperger disorder, sometimes referred to as Asperger syndrome, is a neurobiological disorder. In contrast to autistic disorder, individuals with Asperger disorder do not have a delay in spoken language development. However, they can have serious deficits in social and communication skills. They often have obsessive, repetitive routines and preoccupations with a particular subject matter.

Pervasive Developmental Disorder Not Otherwise Specified (PDD/NOS)
PDD/NOS is a diagnosis often considered for children who show some signs of autistic disorder, but who do not meet the specific diagnostic criteria for the other PDDs.

Rett Disorder
Rett disorder is a complex neurological disorder that affects mainly girls, but there are reports of males who this disorder. Rett disorder is genetic in origin, and is among the most common genetic cause of profound intellectual and physical disability in girls, occurring more commonly than 1 in 10,000 female births. Individuals with Rett disorder develop normally until 6 to 18 months of age followed by a developmental regression. This regression is followed by a deceleration of head growth, loss of purposeful hand movements and followed by the appearance of midline, stereotypic hand movements. A gene associated with Rett disorder was identified in 1999.

Childhood Disintegrative Disorder
Children with childhood disintegrative disorder develop normally for a relatively prolonged period (usually 2 to 4 years) before developing a condition that resembles autistic disorder. Typically language, interest in the social environment, and often toileting and self-care abilities are lost, and there may be a general loss of interest in the environment.

 

Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, 1994, pg. 65-78.

   

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