Communication issues in 22q11.2 deletion syndrome: Children at risk

Solot, Cynthia; Gerdes, Marsha; Kirschner, Richard E.; McDonald‐McGinn, Donna M.; Moss, Edward; Woodin, Michael; Aleman, David O.; Zackai, Elaine H.; Wang, Paul P.

doi:10.1097/00125817-200101000-00015

Cited by 92 publications

(103 citation statements)

References 23 publications

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“…Many of our patients used manual signs to enhance communication. This is also reported by others [31]. In 15 of our patients, speech difficulties led to genetic testing (Fig.…”

Section: Discussionsupporting

confidence: 88%

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

et al. 2010

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Patients with the 22q11.2 deletion syndrome display a wide phenotypic variation that is important for clinical follow-up. In this national survey of 60 patients (ages 1 to 54 years) diagnosed by Fluorescence in situ hybridization test, data were collected from medical records, a physical examination, and a semistructured interview. Ultrasound investigation of the kidneys was also performed. In addition, multiplex ligation probe amplification assay was performed to detect deletion size. Phenotypic features leading to the genetic diagnosis were noted. The patients showed a variety of organ malformations including 39 with heart anomalies. Only 20 individuals had been diagnosed with 22q11.2 DS in the first year of life. Four patients had renal and five males had genital malformations. The increased infection susceptibility (excluding otitis media) and most feeding difficulties subsided during early childhood. Speech difficulties started early and were a major problem for many patients at least until 10 years of age. Ten patients developed kyphoscoliosis in late childhood. In teenagers and adults, abnormal social behavior, learning disabilities, and psychiatric symptoms dominated. Our study which also includes adult patients emphasizes a marked change in challenges in individuals with the 22q11.2 deletion syndrome with increasing age.

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“…Many of our patients used manual signs to enhance communication. This is also reported by others [31]. In 15 of our patients, speech difficulties led to genetic testing (Fig.…”

Section: Discussionsupporting

confidence: 88%

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

et al. 2010

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“…Relative to expressive language and speech production, far less is known about receptive language skills in this population. Although most data suggest that receptive language abilities are relatively stronger in individuals with VCFS (Moss et al, 1999;Persson, Lohmander, Jonsson, Oskarsdottir, & Soderpalm, 2003;Scherer et al, 1999;Solot et al, 2001), at least one study found that expressive language skills are better developed than receptive skills (Glaser et al, 2002).…”

Section: Receptive Languagementioning

confidence: 99%

Language and Literacy Development in Individuals With Velo-cardio-facial Syndrome

Antshel

Marrinan

Kates

et al. 2009

Topics in Language Disorders

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Velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion of chromosome 22q11.2. Although there is some variability, VCFS is associated with a characteristic physical, behavioral, and cognitive phenotype. This review article focuses on aspects of language and literacy development in VCFS, describing what is known and offering avenues for future research. The most consistently reported language and literacy findings in the VCFS population include reading, spelling, phonological processing, and auditory verbal rote memory abilities as areas of relative strength. Receptive language abilities are noted to be relatively stronger than expressive language abilities in individuals with VCFS. Speech disorders are very common in VCFS, and the most common compensatory articulation substitution in VCFS is the glottal stop.

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“…Given that receptive language emerges before expressive language, some [Simon et al, 2007] have suggested that the language system is slow maturing due to the more general cognitive delays. For example, Solot et al [2001] investigated language development in two groups of youth with VCFS: preschool and school-aged children. In the preschool sample, receptive language was an area of relative strength; in the school-aged sample, the opposite pattern was evident.…”

Section: Cognitive Relative Strengthsmentioning

confidence: 99%

The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective

Antshel

Fremont

Kates

2008

Dev Disabil Res Revs

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Although research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo-cardio-facial syndrome (VCFS), we know relatively little about the extent to which within-individual expressions of the cognitive phenotype remain stable throughout development. General cognitive functioning in the low borderline range is the most consistent cognitive finding. Stronger reading decoding and spelling skills as well as auditory/verbal rote memory skills have been reported to be areas of relative strength. Conversely, significant visuospatial dysfunction, diminished math attainment, and executive dysfunction have all been reported as phenotypic. We propose several considerations that could advance our knowledge of developmental changes in the VCFS cognitive phenotype. The most salient of these is the need for more longitudinal designs with carefully matched control participants.

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Communication issues in 22q11.2 deletion syndrome: Children at risk

Cited by 92 publications

References 23 publications

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Language and Literacy Development in Individuals With Velo-cardio-facial Syndrome

The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective

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