Abstract:
:SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals with SAS were mostly non-verbal communicators (72.1%) with severe deficits in both language comprehension and expression. The majority of individuals had receptive vocabulary skills of a child younger than 3 years of age. Based on parent report, the average spoken lexicon was 28.6 (SD = 84.6, n = 55) with a range of 0 to 500 (median = 5 words). All of the individuals with SAS with enough verbal ability either showed signs of childhood apraxia of speech or already had a diagnosis (n = 40) and 73.3% exhibited problems with reliable communication with unfamiliar partners. Hypernasal resonance (17.8%) due to velopharyngeal insufficiency secondary to a history of cleft palate and/or apraxic palatal movement (60.0% of hypernasal patients with no history of cleft palate), problems with chewing (68.2%), overstuffing the mouth with solids (64.9%), pharyngeal phase dysphagia (60.8%), and sialorrhea (63.3%) were common in this population. Mutation type was not predictive of receptive or expressive language abilities. We developed language and communication treatment recommendations based on these findings.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Thomason A,Pankey E,Nutt B,Caffrey AR,Zarate YAdoi
10.1111/cge.13619subject
Has Abstractpub_date
2019-12-01 00:00:00pages
485-492issue
6eissn
0009-9163issn
1399-0004journal_volume
96pub_type
杂志文章abstract::In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...
journal_title:Clinical genetics
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abstract::A 32-year-old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46,XX,inv(4) (pter----p14::q12----p14::q12----qter) del (4) (pter----15.33::p15.2----qter). Clinically she does not show the features of the Wolf-Hirschhorn syndrome. Her phenotype and c...
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abstract::The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...
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journal_title:Clinical genetics
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更新日期:1990-10-01 00:00:00
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journal_title:Clinical genetics
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doi:10.1111/cge.12194
更新日期:2014-05-01 00:00:00
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1992.tb03620.x
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1994.tb04169.x
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1994.tb03987.x
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2016-04-01 00:00:00
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pub_type: 评论,杂志文章
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abstract::Two semen samples from a 47,XXY male were examined using chromosome-specific DNA probes and fluorescent in situ hybridization (FISH) to determine the distribution of sex chromosomes and an autosome (chromosome 17) in the sperm. A motile population of sperm was also prepared from one sample using the swim-up technique ...
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更新日期:1994-02-01 00:00:00
abstract:BACKGROUND:Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. MATERIALS AND METHODS:Among 971 patient samples, 133 (13.6%) had pathogenic variants. RESULTS:While...
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更新日期:2017-10-01 00:00:00