RESUMO
In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course.
Assuntos
Proteína 2 de Ligação a Metil-CpG/genética , Mutação de Sentido Incorreto , Síndrome de Rett/genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Coleta de Dados , Progressão da Doença , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Rett/fisiopatologia , Índice de Gravidade de Doença , Adulto JovemRESUMO
OBJECTIVE: Assessment of the level of psychosocial adaptation in Dutch young school children with persistent and/or recurrent otitis media compared to a U.S. community sample. The goal of this study was to determine the presence of behavioural effects related to a history of hearing loss resulting from recurrent or persistent otitis media. METHODS: Caregivers of 160 children, age range 4-7 years, suffering from either upper respiratory tract infections (URTI) and/or otitis media with effusion (OME), completed the generic Strengths and Difficulties Questionnaire (SDQ) and impact supplement before consulting the ENT physician. RESULTS: In the ENT sample significant differences were found for the SDQ subscales hyperactivity-inattention and emotional symptoms, as well as for the total difficulties score and impact rating, compared to the U.S. community sample (p<.0005). Classification of severity (low, medium, high difficulties) for SDQ symptom scores, according to U.S. normative scoring bands, showed significantly more children in higher severity bands for SDQ total difficulties (p<.0005), emotional symptoms (p<.005), hyperactivity-inattention (p<.001) and prosocial behaviour (p<.005). This is expressed in a larger percentage of scores in the high difficulties (>90% of scores) than in the medium difficulties (80-90% of scores) band for most ENT SDQ scores, except for SDQ prosocial behaviour (18.1%) and total difficulties (17.5%). CONCLUSION: The level of psychosocial adaptation seems to be compromised in the Dutch ENT sample for both internalising (emotional symptoms) and externalising (hyperactivity-inattention) behaviour dimensions, which indirectly supports the cumulative effects of a disease history with chronic otitis media, resulting in poorer attention skills and fewer social interactions present. The classification of SDQ symptom severity, indicates that any behavioural effect of otitis media and resulting hearing loss is within the borderline score range, asking for vigilance regarding possible developmental and educational sequelae during childhood.
Assuntos
Adaptação Psicológica , Comportamento Infantil , Otite Média/psicologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , MasculinoRESUMO
OBJECTIVES/HYPOTHESIS: To describe spontaneous hearing improvement in the first years of life of a number of preterm neonates relative to cochlear implant candidacy. STUDY DESIGN: Retrospective case study. METHODS: Hearing levels of 14 preterm neonates (mean gestational age at birth = 29 weeks) referred after newborn hearing screening were evaluated. Initial hearing thresholds ranged from 40 to 105 dBHL (mean = 85 dBHL). RESULTS: Hearing level improved to normal levels for four neonates and to moderate levels for five, whereas for five neonates, no improvement in hearing thresholds was observed and cochlear implantation was recommended. Three of the four neonates in whom the hearing improved to normal levels were born prior to 28 weeks gestational age. Hearing improvement was mainly observed prior to a gestational age of 80 weeks. CONCLUSIONS: Delayed maturation of an immature auditory pathway might be an important reason for referral after newborn hearing screening in premature infants. Caution is advised regarding early cochlear implantation in preterm born infants. Audiological follow-ups until at least 80 weeks gestational age are therefore recommended.