RESUMO
PURPOSE: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis. METHODS: In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. In addition, myt1l spatiotemporal expression in zebrafish embryos was analyzed by quantitative polymerase chain reaction and whole-mount in situ hybridization. RESULTS: Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L. The familial cases comprise a 6-Mb deletion in a father and his three children and a 5' MYT1L overlapping duplication in a father and his two children. Expression analysis in zebrafish embryos shows specific myt1l expression in the developing brain. CONCLUSION: Our data strongly strengthen the hypothesis that MYT1L is the causal gene for the observed syndromal intellectual disability. Moreover, because 17 patients present with obesity/overweight, haploinsufficiency of MYT1L might predispose to weight problems with childhood onset.Genet Med 17 6, 460-466.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 2 , Deficiência Intelectual/genética , Proteínas do Tecido Nervoso/genética , Obesidade/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Animais , Criança , Pré-Escolar , Mapeamento Cromossômico , Estudos de Coortes , Fácies , Feminino , Duplicação Gênica , Expressão Gênica , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação Puntual , Adulto Jovem , Peixe-ZebraRESUMO
INTRODUCTION: The incidence of torticollis, which is often accompanied by some degree of plagiocephaly in infants, has remained increased since the introduction of the supine sleeping position to prevent sudden infant death. Recently, instruments allowing quantitative measurement of torticollis and related pathology have been developed and validated. The aim of the present study was to monitor a cohort of children with torticollis using a standardised protocol including valid and reliable measurements. METHODS: A total of 136 infants diagnosed with torticollis and referred to physiotherapeutic treatment in four paediatric departments were included (October 2009-April 2011). Trained and calibrated physiotherapists assessed their cervical range of motion (ROM), cervical muscle function and severity of plagiocephaly prior to and after the treatment period. RESULTS: The infants' median age was three months at inclusion and seven months at the end of the treatment period that comprised a median of five treatment sessions. Initially, 52% and 54% presented with ROM deficits in rotation and lateral flexion, respectively. After treatment, these parts were reduced to 6% and 14%, and the magnitudes of the remaining ROM deficits were substantially reduced. Plagiocephaly improved in 82, remained unchanged in 18 and deteriorated in five of 105 infants with complete follow-up. Symmetrical or almost symmetrical muscle function was achieved in 93% (n = 101). CONCLUSION: A successful outcome was achieved in the majority (90%) of children with torticollis with less than ten physiotherapeutic treatment sessions. FUNDING: not relevant. TRIAL REGISTRATION: not relevant.
Assuntos
Modalidades de Fisioterapia , Torcicolo/terapia , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Plagiocefalia não Sinostótica/diagnóstico , Estudos Prospectivos , Amplitude de Movimento Articular , Resultado do TratamentoRESUMO
OBJECTIVE: To compare the effect of the programs of IAHP and FHC with ordinary community-based programs. METHOD: Two-year observational study of two groups of children aged 2-15 years who were following the IAHP and FHC programs (N = 18) or community-based programs (N = 17), with additional material from interviews with parents, and a retrospective study (N = 9) based on file records and parent interviews. RESULTS: Changes in motor and cognitive function, language and behavior in the IAHP/FHC group well below the claims made by these programs, and few differences between this group and the comparison group. Intervention satisfaction lower prior to IAHP/FHC intervention than in the comparison group, and increased when moved to IAHP and FHC, independent of the children's progress. CONCLUSION: The substantial claims of superiority compared to other interventions made by IAHP and FHC are not supported, but parents appear to be met in a positive manner in these programs.
