Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing

Zhu, Wen; Cheng, Tian-Lin; Yin, Dazhi; Sun, Shi-Bang; Wang, Zheng; Yu, Shunying; Zhang, Yi; Qiu, Zilong; Du, Yasong

doi:10.1007/s12264-017-0119-0

Cited by 5 publications

(4 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Importantly, she had focal neurology and a deteriorating course. Other examples of CDD presenting as part of syndromes with known aetiology include a report of two brothers with mucopolysaccharidosis III, caused by mutations in N ‐sulfoglucosamine sulfohydrolase F101S, which presented as CDD with focal neurology . The brothers exhibited progressive decline.…”

Section: Discussionmentioning

confidence: 99%

“…Other examples of CDD presenting as part of syndromes with known aetiology include a report of two brothers with mucopolysaccharidosis III, caused by mutations in N-sulfoglucosamine sulfohydrolase F101S, which presented as CDD with focal neurology. 41 The brothers exhibited progressive decline. Another case report describes CDD-like regression in a previously typically developing 9-year-old male secondary to anti-N-methyl-D-aspartate-receptor encephalitis.…”

Section: Cdd Versus Progressive Intellectual and Neurological Deteriomentioning

confidence: 99%

See 1 more Smart Citation

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Mehra

Sil

Hedderly

et al. 2018

Develop Med Child Neuro

View full text Add to dashboard Cite

Aim In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD). Method Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision. Comparison groups were those with ASD and ASD with regression. Case studies were excluded. Results Twenty articles, comprising 96 participants with CDD (80 males, 16 females), were included. Most studies were cross‐sectional. The prevalence of CDD was 1.1 to 9.2 per 100 000, with a mean age at regression of 3 years 2 months (SD 1y 1mo), with a range of 2 years to 7 years. In addition to core CDD symptoms, most had intellectual impairment, anxiety, challenging behaviours, and regressed in toileting skills. Participants with CDD and ASD shared core diagnostic and extra‐diagnostic features. However, participants with CDD seemed to have more severe symptoms and a different symptom profile, including apparently typical development before regression, faster regression, more affective symptoms, and more global developmental deficit. Possible genetic and autoimmune neurobiological mechanisms were identified. Interpretation There is limited high‐quality evidence describing the aetiology and outcomes of CDD. However, given the qualitative and prognostic differences between ASD and CDD, we recommend that future diagnostic criteria should distinguish late‐onset regression.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Cdd Versus Progressive Intellectual and Neurological Deteriomentioning

confidence: 99%

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Mehra

Sil

Hedderly

et al. 2018

Develop Med Child Neuro

View full text Add to dashboard Cite

show abstract

“…1,9,25 Disease manifestation during periods of acute psychological (or physiological stress), are non-specific however. 26 Support for a genetic basis for childhood disintegrative disorder has been noted in reports of sibling clusters, 25,27 with associations to copy number variants, and in candidate gene clusters. 4,[28][29][30] In our cohort, chromosome microarray revealed a 15q11.2 BP1-BP2 microdeletion in patient 4 causing Burnside-Butler syndrome.…”

Section: Discussionmentioning

confidence: 98%

Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series

Sullivan,

Gupta,

Taylor

et al. 2023

J Child Neurol

View full text Add to dashboard Cite

Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in previously developed language, social behavior, and adaptive functions. The etiology of childhood disintegrative disorder remains unknown and treatment is focused on symptomatic management. Interest in neuroinflammatory mechanisms has grown with the increased recognition of autoimmune brain diseases and similarities between the presenting symptoms of childhood disintegrative disorder and pediatric autoimmune encephalitis. Importantly, a diagnosis of pediatric autoimmune encephalitis requires evidence of inflammation on paraclinical testing, which is absent in childhood disintegrative disorder. Here we report 5 children with childhood disintegrative disorder who were initially diagnosed with possible autoimmune encephalitis and treated with immunotherapy. Two children had provocative improvements, whereas 3 did not change significantly on immunotherapy. Additionally, a sixth patient with childhood disintegrative disorder evaluated in our Autoimmune Brain Disease Clinic showed spontaneous improvement and is included to highlight the variable natural history of childhood disintegrative disorder that may mimic treatment responsiveness.

show abstract

“…Neuroimaging can also be used in combination with genome sequencing to characterize rare disorders. The letter by Wen et al [42] identifies an inherited mutation in SGSH, encoding N-sulfoglucosamine sulfohydrolase (MIM: 605270), in two brothers with Childhood Disintegrative Disorder, a rare childhood disorder with autistic phenotypes.…”

mentioning

confidence: 99%

Recent Research Progress in Autism Spectrum Disorder

Qiu

Zhang

2017

Neurosci. Bull.

Self Cite

View full text Add to dashboard Cite

Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing

Cited by 5 publications

References 13 publications

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series

Recent Research Progress in Autism Spectrum Disorder

Contact Info

Product

Resources

About