Behavioural characteristics and autistic features in individuals with Cohen Syndrome

Howlin, Patricia; Karpf, Janne; Turk, Jeremy

doi:10.1007/s00787-005-0416-4

Cited by 25 publications

(10 citation statements)

References 15 publications

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“…Howlin et al [2005] reported a prevalence of 72% for ASD, according to the ADOS‐G and ADI‐R scales. It should be stressed, however, that diagnoses of the syndrome had been based on clinical criteria and had not been genetically confirmed.…”

Section: Main Syndromesmentioning

confidence: 99%

Autism spectrum disorders: The quest for genetic syndromes

Zafeiriou

Ververi

Dafoulis

et al. 2013

American J of Med Genetics Pt B

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Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc. Clinicians are increasingly required to recognize genetic disorders in individuals with ASD, in terms of providing proper care and prognosis to the patient, as well as genetic counseling to the family. Vice versa, it is equally essential to identify ASD in patients with genetic syndromes, in order to ensure correct management and appropriate educational placement. During investigation of genetic syndromes, a number of issues emerge: impact of intellectual disability in ASD diagnoses, identification of autistic subphenotypes and differences from idiopathic autism, validity of assessment tools designed for idiopathic autism, possible mechanisms for the association with ASD, etc. Findings from the study of genetic syndromes are incorporated into the ongoing research on autism etiology and pathogenesis; different syndromes converge upon common biological backgrounds (such as disrupted molecular pathways and brain circuitries), which probably account for their comorbidity with autism. This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.

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Section: Main Syndromesmentioning

confidence: 99%

Autism spectrum disorders: The quest for genetic syndromes

Zafeiriou

Ververi

Dafoulis

et al. 2013

American J of Med Genetics Pt B

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“…Since then, there has been no further deterioration in her development 3 . In a recent study 8 of patients with Cohen syndrome, 57% of the sample was reported to have behavioral problems. Our patient, however, was aware of the stains on her teeth and cooperated during treatment, which resulted in a positive interaction between herself and the dentist.…”

Section: Discussionmentioning

confidence: 97%

“…Other abnormalities may include obesity, muscle hypotonia and weakness, mental disability, strabismus, narrow hands and feet with mild shortening of metacarpals and metatarsals, lumbar lordosis, and delayed puberty 5,6 . Since Cohen syndrome was first described, nearly 100 cases have been reported, 7 and its prevalence has been estimated at 1:105,000 live births 8 …”

Section: Introductionmentioning

confidence: 99%

Enamel microabrasion in an individual with Cohen syndrome

Macedo¹,

Tomazela‐Herndl

Corrêa

et al. 2008

Special Care in Dentistry

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This case report describes the esthetic dental treatment of a patient with Cohen syndrome where microabrasion was used to treat dental fluorosis. The patient's teeth had white and light yellow spots, which were diagnosed as moderate dental fluorosis. These spots were treated with microabrasion using pumice paste and 37% phosphoric acid. The paste was applied with a rubber cup on a low-speed handpiece and manually using a wooden stick. It took four appointments to treat all of the patient's teeth. Topical neutral fluoride was applied after each appointment to decrease any dental sensitivity. The esthetic result was satisfactory. Esthetic dental treatment may result in positive emotional and behavioral changes in patients with special needs.

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“…Other signs and symptoms include short stature and scoliosis [12, 20]. In addition, individuals with CS have high rates of ASD or autistic features [21]. The estimated prevalence of CS is 1:105,000 [22], however, its frequency may be considerably higher due to the fact that patients are often not diagnosed until they reach their teenage or adult years.…”

Section: Case Presentationmentioning

confidence: 99%

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

et al. 2016

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BackgroundThe recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk.Case presentationIn this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11.2 from his apparently healthy mother. We identified novel splicing variants of VPS13B (8q22.2) in the proband with compound heterozygous inheritance. Two VPS13B mutations abolished the canonical splice sites resulting in low RNA expression in transformed lymphoblasts of the proband. VPS13B mutation causes Cohen syndrome (CS) consistent with the proband’s phenotype (intellectual disability (ID), microcephaly, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia).The new diagnosis of CS has important health implication for the proband, provides the opportunity for more meaningful and accurate genetic counselling for the family; and underscores the importance of longitudinally following patients for evolving phenotypic features.ConclusionsThis is the first report of a co-occurrence of pathogenic variants with familial dup16p11.2. Our finding suggests that the variable expressivity among carriers of rare putatively pathogenic CNVs such as dup16p11.2 warrants further study by WES and individualized genetic counselling of families with such CNVs.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0340-0) contains supplementary material, which is available to authorized users.

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Behavioural characteristics and autistic features in individuals with Cohen Syndrome

Cited by 25 publications

References 15 publications

Autism spectrum disorders: The quest for genetic syndromes

Autism spectrum disorders: The quest for genetic syndromes

Enamel microabrasion in an individual with Cohen syndrome

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

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