30 research outputs found
Expressive language in children with Kabuki syndrome
No full textSince the description of Kabuki syndrome in 1981 over 300 cases from a variety of countries have been reported. Only a limited number of these reports, however, provided data on speech language development. Ghent University Hospital (J. Van Borsel, T. Defloor) and the Department of Clinical Genetics, Academic Hospital Maastricht (C.T.R.M. Schrander-Stumpel, L.M.G. Curfs) are directing research on the specific nature of communicative development in persons with Kabuki syndrome. The aim of the present study was to delineate the language difficulties in the syndrome. The subjects were six Dutch-speaking children (three male, three female), with chronological age ranging from 4.4 to 10.6 years (mean = 8.1). Spontaneous speech samples were collected, subjected to a consensus orthographic transcription, and analyzed by means of TOAST [Moerman-Coetsier and Van Besien, 1987], a Dutch standardized diagnostic instrument to investigate different aspects of spontaneous language production. In all the children, expressive language abilities were impaired. Poor morphosyntactic abilities were consistently demonstrated. Lexical and pragmatic difficulties were also present, whereas phonological development was less often affected
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome
No full textSteinbusch CVM, van Roozendaal KEP, Tserpelis D, Smeets EEJ, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RCM, Blok MJ, Schrander-Stumpel CTRM. Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, unusual face and breathing abnormalities and can be caused by haploinsufficiency of TCF4. The majority of cases are sporadic. Somatic mosaicism was reported infrequently. We report on a proband with typical manifestations of PTHS and his younger brother with a less striking phenotype. In both, a heterozygous frameshift mutation (c.1901_1909delinsA, p.Ala634AspfsX67) was found in exon 19 of TCF4. The same mutation was found at low levels in DNA extracted from the mother's blood, urine and saliva. This report of familial recurrence with somatic mosaicism in a healthy mother has important consequences for genetic counseling. We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for TCF4 mutations
Orthopaedic Aspects of SAMS Syndrome.
No full textThe combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the present date, only four affected individuals have been reported. There are several striking orthopaedic diagnoses within the SAMS syndrome. In particular, the scapulohumoral synostosis and the bilateral congenital ventral dislocation of the hips. The purpose of this report is to underline the importance of recognizing pathognomic features of SAMS syndrome. Whenever a bilateral congenital ventral dislocation of the hips and/or a scapulohumoral synostosis is found or clinically suspected, SAMS syndrome should be considered as the primary diagnosis until proven otherwise
Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6)
No full textBreakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6)
No full textActivity related energy expenditure in children and adolescents with Prader-Willi syndrome
No full textOBJECTIVE: To measure activity related energy expenditure in Prader-Willi syndrome (PWS) corrected for body size. SUBJECTS: 17 PWS subjects (10 females, seven males, age 7.5-19.8 y) and 17 obese controls, matched for gender and bone age. MEASUREMENTS: Basal metabolic rate (BMR) was measured by ventilated hood and average daily metabolic rate (ADMR) was measured with doubly labelled water. Activity induced energy expenditure (AEE) was calculated as 0.9ADMR - BMR. Activity related energy expenditure was corrected for body size using the following measures: AEE per kg body weight (AEE/kg), ADMR/BMR (PAL), and the residual of the regression of ADMR on BMR (rADMR). Group differences were analyzed by analysis of covariance adjusting for bone age, fat mass (FM) and gender. RESULTS: ADMR, AEE and PAL were lower (P <0.01) in the PWS group compared with the control group (7.14 +/- 1.72, 1.07 +/- 0.69 and 1.33 +/- 0.15 MJ/day compared with 9.94 +/- 2.64, 2.56 +/- 1.03 and 1.55 +/- 0.12 MJ/day respectively). The variance of AEE/kg and PAL was significantly explained by gender and PWS, while AEE was additionally explained by FM. The variance of rADMR was explained by PWS and not by FM or gender CONCLUSION: Activity related energy expenditure is decreased in PWS compared with controls adjusted for bone age, FM and gender
