Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)

Roubertie, Agathe; Semprino, Marcos; Chaze, Anne-Marie; Rivier, François; Humbertclaude, Véronique; Cheminal, R.; Lefort, Geneviève; Échenne, B.

doi:10.1016/s0387-7604(01)00258-3

Cited by 28 publications

(26 citation statements)

References 10 publications

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“…For example, they exhibit inappropriate or constricted ranges of facial affect when compared to children without ASDs (Yirmiya, Sigman, Kasari, & Mundy, 1992). Similar behaviors have been described in some studies of individuals with the 22q11.2 deletion (e.g., Roubertie et al, 2001), but findings are mixed in terms of the prevalence of autism spectrum symptoms and disorders in this population. Some researchers have reported that the occurrence of ASDs in children with 22q11.2 deletion is relatively uncommon (e.g., Kozma, 1998).…”

supporting

confidence: 67%

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Fine

Weissman

Gerdes

et al. 2005

J Autism Dev Disord

194

142

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In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children's caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.

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supporting

confidence: 67%

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Fine

Weissman

Gerdes

et al. 2005

J Autism Dev Disord

194

142

View full text Add to dashboard Cite

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“…One out of these 12 reports described 2 individuals with 22q11DS and Rolandic-like epilepsy [Coppola et al, 2001]. Another report described atypical absence epilepsy in an individual with 22q11DS [Roubertie et al, 2001]. This observation is supported by a second, not PubMed-listed report on a similar single case [Bernhard et al, 2007].…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 90%

“…Eight of the 22 patients with GGE (15%) had additional myoclonic features. In 6 of them these were unspecific (11%), whereas in at least 2 cases (4%), the phenotype supported a diagnosis of JME [Roubertie et al, 2001;El Tahir et al, 2004;Kao et al, 2004;Bernhard et al, 2007;Lemke et al, 2009;de Kovel et al, 2010;Lal et al, 2015;Kim et al, 2016]. Additional 3 patients (6%) had myoclonic jerks and unspecified epilepsy, and 3 patients (6%) had unspecified epilepsy without myoclonic features ( fig.…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 97%

“…Twenty-five of these patients (47%) were diagnosed with focal epilepsy [Coppola et al, 2001;Roubertie et al, 2001;El Tahir et al, 2004;Kao et al, 2004;Bernhard et al, 2007;Lemke et al, 2009;de Kovel et al, 2010;Boot et al, 2015;Lal et al, 2015;Kim et al, 2016]. Twenty-two patients (41%) had the diagnosis of GGE.…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

“…Isolated case reports focussed on epilepsy phenotypes in 22q11DS and described individuals with Rolandic-like epilepsy [Coppola et al, 2001], atypical absences [Roubertie et al, 2001;Bernhard et al, 2007], generalized epilepsy with myoclonic jerks, or JME [El Tahir et al, 2004;Lemke et al, 2009]. Prompted by these reports and the description of CNVs in a subset of GGE cases, we reviewed published and unpublished 22q11DS cases with respect to their epilepsy phenotype and collected further individuals with 22q11DS and GGE/JME.…”

mentioning

confidence: 99%

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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Strehlow

Thomas

et al. 2016

Mol Syndromol

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Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABA_B receptor.

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Medical Aspects of Autism

Filipek¹

2005

Handbook of Autism and Pervasive Developmental Disorders

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Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)

Cited by 28 publications

References 10 publications

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Medical Aspects of Autism

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