Velocardiofacial Syndrome

Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

doi:10.1080/19315860902756136

Cited by 64 publications

(50 citation statements)

References 92 publications

(104 reference statements)

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“…47,52 In addition to schizophrenia and autism, it seems that children with 22q11DS have increased rates of ADHD, anxiety, obsessive-compulsive disorder and mood disorders, (ADHD can be seen in about 30% of patients with 22q11DS 41 ), although it has been hypothesized that this may be secondary to the syndrome and its developmental delays. 53 Children with 22q11DS are similar to children with other developmental disabilities in terms of rate of psychiatric disorders; however, 22q11DS patients do not show the same improvement in mental health in early adulthood as other young adults with developmental disabilities. They are also more likely to have psychotic disorders.…”

Section: Autismmentioning

confidence: 95%

See 1 more Smart Citation

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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Abstract:The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues related to newborn screening. Severe complications that could potentially be helped by screening include cardiac defects in 80% (with 20% having no outward signs to aid detection), hypocalcemia that can lead to seizures in 20% (though hypocalcemia is routinely investigated in sick newborns), and severe immune deficiency in Ͻ1% (which would be identified by some states' severe combined immunodeficiency screens). Other benefits that do not fit traditional goals of newborn screening include treatment for complications such as failure to thrive and developmental delay or preventing a "diagnostic odyssey." Although universal screening may prove the incidence to be Ͼ1:5000, undetected life-threatening effects occur in a minority of 22q11 deletion syndrome patients. Concerns include an untested screening technique, difficulty obtaining results in time for cardiac intervention, the chance of "vulnerable child syndrome" in mild cases, and possibly detecting congenital heart disease more efficiently by other means. Because addition of tests for highly variable conditions such as 22q11 deletion syndrome is likely to set a precedent for other syndromes, reevaluation of newborn screening criteria should be considered. Genet Med 2010:12(3):135-144.

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Section: Autismmentioning

confidence: 95%

“…They are also more likely to have psychotic disorders. 53 It is difficult to quantify the juvenile mental health problems, because reports vary by study design and the largest studies tend not to do very in-depth analysis of mental health.…”

Section: Autismmentioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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“…This genetic condition results from a microdeletion of a series of genes situated at the locus q11.2 on the long arm of one of the two copies of chromosome 22, most of them occurring de novo (85%; Swillen et al, 1999). It is one of the most common microdeletion syndromes with a prevalence from 1:2000 to 1:6000 (Gothelf, Frisch, Michaelovsky, Weizman, & Shprintzen, 2009). The phenotypic manifestations of this condition are highly variable, including approximately 180 distinct clinical traits.…”

Section: Introductionmentioning

confidence: 99%

Evidence of the impact of visuo-spatial processing on magnitude representation in 22q11.2 microdeletion syndrome

et al. 2017

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The influence of visuo-spatial skills on numerical magnitude processing is the subject of a long-standing debate. As most of the numerical and non-numerical magnitude abilities underpinning mathematical development are visual by nature, they are often assessed in the visual modality, thereby confusing visuo-spatial and numerical processing. In order to assess the influence of visuo-spatial processing on numerical magnitude representation, we examined magnitude processing in patients with 22q11.2 deletion syndrome (22q11DS), a genetic condition characterized by a cognitive profile with a relative weakness in visuo-spatial abilities but with preserved verbal abilities. Twenty-seven participants with 22q11DS were compared to two control groups (one matched on verbal intelligence and the other on visuospatial abilities) on several magnitude comparison tasks each with different visuo-spatial processing requirements. Our results showed that participants with 22q11DS present a consistent pattern of impairment in magnitude comparison tasks requiring the processing of visuo-spatial dimensions: comparison of lengths and collections. In contrast, their performance did not differ from the control groups in a visual task with no spatial processing requirement (i.e. numerical comparison of flashed dot sequences) or in auditory tasks (i.e., duration comparison and numerical comparison of sound sequences). Finally, a specific deficit of enumeration processes was observed in the subitizing range. Taken together, these results show that deficits in magnitude can occur as a consequence of a visuo-spatial deficit.

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“…Minor medical features, including the characteristic facial features, contribute to the overall clinical picture but are not a major concern to the patient's medical needs. None of these features occur in all patients and none are obligatory [3]. The clinical diagnosis is confirmed by a routine test based on FISH, available in most cytogenetic laboratories [2].…”

Section: Introductionmentioning

confidence: 99%

“…The clinical phenotype is highly variable even within families [2] and more than 180 associated anomalies have been described [3].…”

Section: Introductionmentioning

confidence: 99%

Presenting symptoms in adults with the 22q11 deletion syndrome

Vogels¹,

Schevenels²,

Cayenberghs³

et al. 2014

European Journal of Medical Genetics

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A definitive molecular diagnosis of 22q11 Deletion Syndrome (22q11DS) even if occurring later in life, has important genetic, medical and emotional impact on the patients and their families. The aim of this study is to describe presenting symptoms and age at diagnosis in an adult 22q11DS population A retrospective study was performed on 65 individuals diagnosed with 22q11DS at adult age.Data were collected on adults referred to the genetic clinic or actively recruited through systematic diagnostic examination in both institutions and a psychiatric unit for intellectually disabled. Presenting symptoms were categorized into seven groups: familial occurrence, intellectual disability, cardiac anomalies, palatal anomalies, facial dysmorphic features, psychiatric problems and 'other' (comprising all other features associated with 22q11DS).Age at diagnosis was defined as the age at which the 22q11.2 deletion was detected by fluorescence in situ hybridization or comparative genomic hybridization. Ascertainment subgroups were different in presenting symptoms and age at diagnosis. Adults were referred to the genetic clinic mainly because of familial occurrence, cardiac defects and psychiatric disorders whereas adults diagnosed in institutions for intellectually disabled presented mainly with moderate to severe intellectual disability and psychotic disorders. Adults diagnosed at the psychiatric unit for intellectually disabled had a variety of psychiatric disorders but none of them had additional physical features.This emphasizes the need to stay alert for presenting symptoms such as conotruncal heart defects or moderate to severe intellectual disability in combination with a history of psychiatric disorders, even in the absence of obvious physical features.

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Velocardiofacial Syndrome

Cited by 64 publications

References 92 publications

Newborn screening programs: Should 22q11 deletion syndrome be added?

Newborn screening programs: Should 22q11 deletion syndrome be added?

Evidence of the impact of visuo-spatial processing on magnitude representation in 22q11.2 microdeletion syndrome

Presenting symptoms in adults with the 22q11 deletion syndrome

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