Article Type: Case Reports
Cri du Chat Syndrome Coexistent with Autism Spectrum Disorder: A Case Report
Sumeyra Firat, Pinar Uran Senol, Fatma Ayla Soykan Aysev
Background: Cri du chat syndrome is characterized by significant impairment in expressive language skills, and impairment of the recipient language. This syndrome is caused by a deletion in the short arm of chromosome 5. Behavioral features associated with syndrome include hyperactivity, self-injurious, aggressive, and stereotyped behaviors. Autism Spectrum Disorders (ASD) is a serious neuropsychiatric disorder characterized by impairments in social interaction and communication, restricted and stereotyped behavioral patterns.

Case Report: Two year and four month old male case presented with complaints of unsteady walking, short time eye contact, speech delay, repetitive behaviors like wing flap, excessive interest in rotating objects. In addition to these, we recognized hypertelorism, broad nasal root, micrognathia, and microcephaly in the physical examination. His walking was ataxic. In psychiatric evaluation, we found that his social communication and interaction were limited. We started follow-up and treatment with ASD diagnosis. In the chromosome analysis examination; 46, XY, del (5) (p15) and Cri du Chat syndrome was diagnosed.

Conclusion: The relationship between autism spectrum disorders and genetic diseases is still one of the mysteries. This case report presents a case of Cri du Chat syndrome and ASD in order to shed light on this relationship.

Key words: Autism, cri du chat syndrome
Psychiatry and Behavioral Sciences 2018;8(2):89-92
1.Collins MS, Cornish K. A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. J Intellect Disabil Res 2002;46(2):133-40.

2.Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, et al. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet 2005;67(4):341-51.

3.Cochran L, Moss J, Nelson L, Oliver C. Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, fragile X, and Cri du Chat syndromes: results from a 2.5 year follow up. Am J Med Genet C Semin Med Genet 2015;169(2):188-97.

4.Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, et al. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet A 2016;170(3):583-93.

5.American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders: Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Arlington, VA: American Psychiatric Association, 2013.

6.Moss J, Oliver C, Berg K, Kaur G, Jephcott L, Cornish K. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard 2008;113(4):278-91.

7.Claro A, Cornish K, Gruber R. Association between fatigue and autistic symptoms in children with cri du chat syndrome. Am J Intellect Dev Disabil 2011;116(4):278-89.

8.Cornish K, Munir F. Receptive and expressive language skills in children with cri-du-chat syndrome. J Commun Disord 1998;31(1):73-81.

9.Cornish K, Pigram J. Developmental and behavioural characteristics of cri du chat syndrome. Arch Dis Child 1996;75(5):448-50.

10.Moss J, Howlin P, Hastings RP, Beaumont S, Griffith GM, Petty J, et al. Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. Am J Intellect Dev Disabil 2013;118(4):262-83.
Online ISSN: 2636-834X
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