Genetic Counseling in Autism and Pervasive Developmental Disorders

Overview

Journal J Autism Dev Disord

Publisher Springer

Date 1998 Nov 14

PMID 9813780

Citations 23

Authors

E Simonoff

Affiliations

Soon will be listed here.

Abstract

With increasing awareness of the importance of genetic influences on autism, there is now a demand from families with an affected member for advice regarding their risk of having an autistic child. Research evidence currently available makes it possible to give families empirical recurrence risks. It is desirable that this information is imparted by those with joint expertise in the diagnosis and treatment of autism and in the genetics of complex modes of inheritance. A protocol for genetic counseling is described, along with the key elements that influence the recurrence risks given to individual couples. There is a need to give information regarding recurrence risks not only for autism but also for the broader phenotype. In addition, couples may have other issues they wish to discuss, which may influence their reproductive decisions.

Citing Articles

Vitamin D levels in children and adolescents with autism.

Sengenc E, Kiykim E, Saltik S J Int Med Res. 2020; 48(7):300060520934638.

PMID: 32668174 PMC: 7364837. DOI: 10.1177/0300060520934638.

Prenatal genetic counselling for psychiatric disorders.

Inglis A, Morris E, Austin J Prenat Diagn. 2016; 37(1):6-13.

PMID: 27466037 PMC: 5247258. DOI: 10.1002/pd.4878.

Autism spectrum disorder in adults: diagnosis, management, and health services development.

Murphy C, Wilson C, Robertson D, Ecker C, Daly E, Hammond N Neuropsychiatr Dis Treat. 2016; 12:1669-86.

PMID: 27462160 PMC: 4940003. DOI: 10.2147/NDT.S65455.

Genetic testing in children with autism spectrum disorders.

Cop E, Yurtbasi P, Oner O, Munir K Anadolu Psikiyatri Derg. 2015; 16(6):426-432.

PMID: 26345476 PMC: 4560248. DOI: 10.5455/apd.1414607917.

Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation.

Vande Wydeven K, Kwan A, Hardan A, Bernstein J J Genet Couns. 2012; 21(6):803-13.

PMID: 22415587 DOI: 10.1007/s10897-012-9494-x.

References

Delong R . Children with autistic spectrum disorder and a family history of affective disorder. Dev Med Child Neurol. 1994; 36(8):674-87. DOI: 10.1111/j.1469-8749.1994.tb11910.x. View

Delong R, Nohria C . Psychiatric family history and neurological disease in autistic spectrum disorders. Dev Med Child Neurol. 1994; 36(5):441-8. View

Bolton P, Murphy M, Macdonald H, Whitlock B, Pickles A, Rutter M . Obstetric complications in autism: consequences or causes of the condition?. J Am Acad Child Adolesc Psychiatry. 1997; 36(2):272-81. DOI: 10.1097/00004583-199702000-00018. View

Simonoff E, Bolton P, Rutter M . Mental retardation: genetic findings, clinical implications and research agenda. J Child Psychol Psychiatry. 1996; 37(3):259-80. DOI: 10.1111/j.1469-7610.1996.tb01404.x. View

Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim C . Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet. 1995; 57(3):717-26. PMC: 1801262. View

Gillberg C, Steffenburg S, Wahlstrom J, Gillberg I, Sjostedt A, Martinsson T . Autism associated with marker chromosome. J Am Acad Child Adolesc Psychiatry. 1991; 30(3):489-94. DOI: 10.1097/00004583-199105000-00022. View

Szatmari P, Jones M, Tuff L, Bartolucci G, Fisman S, Mahoney W . Lack of cognitive impairment in first-degree relatives of children with pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry. 1993; 32(6):1264-73. DOI: 10.1097/00004583-199311000-00022. View

Bailey A, Palferman S, Heavey L, Le Couteur A . Autism: the phenotype in relatives. J Autism Dev Disord. 1998; 28(5):369-92. DOI: 10.1023/a:1026048320785. View

Jorde L, Waldmann R, Ritvo E, Freeman B, Pingree C, McMahon W . The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. Am J Med Genet. 1990; 36(1):85-8. DOI: 10.1002/ajmg.1320360116. View

10.

Bolton P, Pickles A, Murphy M, Rutter M . Autism, affective and other psychiatric disorders: patterns of familial aggregation. Psychol Med. 1998; 28(2):385-95. DOI: 10.1017/s0033291797006004. View

11.

Folstein S, Rutter M . Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry. 1977; 18(4):297-321. DOI: 10.1111/j.1469-7610.1977.tb00443.x. View

12.

Rutter M, Bailey A, Bolton P, Le Couteur A . Autism and known medical conditions: myth and substance. J Child Psychol Psychiatry. 1994; 35(2):311-22. DOI: 10.1111/j.1469-7610.1994.tb01164.x. View

13.

Le Couteur A, Bailey A, Goode S, Pickles A, Robertson S, Gottesman I . A broader phenotype of autism: the clinical spectrum in twins. J Child Psychol Psychiatry. 1996; 37(7):785-801. DOI: 10.1111/j.1469-7610.1996.tb01475.x. View

14.

Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg I, Jakobsson G . A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry. 1989; 30(3):405-16. DOI: 10.1111/j.1469-7610.1989.tb00254.x. View

15.

Piven J, Gayle J, Chase G, Fink B, Landa R, Wzorek M . A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. J Am Acad Child Adolesc Psychiatry. 1990; 29(2):177-83. DOI: 10.1097/00004583-199003000-00004. View

16.

Smalley S, McCracken J, Tanguay P . Autism, affective disorders, and social phobia. Am J Med Genet. 1995; 60(1):19-26. DOI: 10.1002/ajmg.1320600105. View

17.

Baker P, Piven J, Schwartz S, Patil S . Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord. 1994; 24(4):529-35. DOI: 10.1007/BF02172133. View

18.

Gillberg C . Chromosomal disorders and autism. J Autism Dev Disord. 1998; 28(5):415-25. DOI: 10.1023/a:1026004505764. View

19.

Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M . A case-control family history study of autism. J Child Psychol Psychiatry. 1994; 35(5):877-900. DOI: 10.1111/j.1469-7610.1994.tb02300.x. View

20.

Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E . Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995; 25(1):63-77. DOI: 10.1017/s0033291700028099. View