Developmental Medicine and Child Neurology最新文献

Aim: To find proof-of-principle evidence for short-term treatment with lamotrigine to improve cognitive functioning of adolescents with neurofibromatosis type 1 (NF1).

Method: This was a double-blind, parallel-group, randomized, placebo-controlled clinical trial (the NF1-EXCEL trial: Examining the Cognitive and Electrophysiological benefit of Lamotrigine in Neurofibromatosis type 1; Clinicaltrials.gov identifier NCT02256124), with the aim of enrolling 60 adolescents with NF1 aged 12 to 17  years 6 months. The short-term study intervention was 200 mg of lamotrigine taken orally for 26 weeks. The primary outcome was performance IQ tested with the Wechsler Intelligence Scale for Children, Third Edition, complemented with secondary outcomes for visuospatial learning efficacy, visual perception, visual sustained attention, fine motor coordination, attention-deficit/hyperactivity problems, and executive functioning.

Results: We screened 402 adolescents with NF1, of whom 31 (eight females) entered the study. Complete-case analysis showed no effect of lamotrigine on either performance IQ (-0.23, 95% CI -6.90 to 6.44) or most secondary outcomes. Visual sustained attention showed a trend towards better performance in the lamotrigine group (-0.81, 95% CI -1.67 to 0.04).

Interpretation: Lamotrigine did not improve cognitive functioning in adolescents with NF1. The small treatment effects make it unlikely that a larger sample size could have changed this conclusion.

Aim: To longitudinally evaluate the natural history of cerebral visual impairment (CVI) in children with cerebral palsy (CP) and identify which early visual signs or symptoms are associated with cognitive visual disorders (CVDs) at school age.

Method: Fifty-one individuals with CP and CVI underwent an ophthalmological, oculomotor, and basic visual function evaluation at three time points: T0 (6-35 months old); T1 (3-5 years old); and T2 (≥6 years old). We also performed a cognitive visual evaluation at T2. Logistic regression fitted using a generalized estimation equation (binary) and cumulative link models (ordinal) were used to model the outcomes of interest.

Results: Ophthalmological deficits were stable over time, except for ocular fundus abnormalities (T1-T0, p = 0.01; T2-T1, p = 0.02; T2-T0, p < 0.01) and strabismus, whose frequency increased with age (T2-T0, p= 0.02 with T2-T0, p = 0.05). Conversely, fixation (T1-T0, T2-T0, p < 0.01), smooth pursuit (T2-T1, T2-T0, p < 0.01), saccades (T1-T0, T2-T1, T2-T0, p < 0.01), as well as visual acuity, contrast sensitivity, and visual field (T1-T0, T2-T0, p < 0.01) all improved over time. Early oculomotor dysfunction was associated with CVD at T2.

Interpretation: Although a diagnosis of CVI was confirmed in all children at each time point, several visual signs and symptoms improved over time; in some cases, they reached complete recovery at T1 and T2. These results emphasize the 'permanent' but 'not unchanging' nature of the CVI associated with CP during development.

Aim: To explore the clinical utility and psychometric properties of standardized tools for the early detection of developmental concerns or disability in young children.

Method: Systematic reviews and clinical practice guidelines containing psychometric data on tools appropriate for use with children from birth to 5 years 11 months were searched for in MEDLINE, CINAHL, Embase, and PsycINFO for the years 2000 to 2023, with no language restrictions.

Results: Eighty-six systematic reviews and six clinical practice guidelines guided identification of tools. A total of 246 tools were identified across domains of neurological, motor, cognition, communication/language, social-emotional, sensory processing, and/or specific diagnostic conditions of attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, developmental coordination disorder, and fetal alcohol spectrum disorder. After critical evaluation, 67 tools were included in the recommendations. Recommendations for screening and diagnostic assessment tools were based on best available evidence for predictive and discriminative validity, diagnostic accuracy, together with consideration of resource use and accessibility.

Interpretation: This comprehensive scoping review provides recommendations on the best tools for primary care, medical, allied health professionals, nursing, and other health workers to detect and identify developmental concerns or disability in young children using evidence-based tools.

Aim: To address substantial gaps in the literature on neuroanatomical variations in females with fragile X syndrome (FXS).

Method: Surface-based modeling techniques were applied to the magnetic resonance imaging of 45 females with FXS (mean age = 10 years 9 months, range 6 years-16 years 4 months, SD = 2 years 9 months) and 33 age-matched and developmentally matched females without FXS to elucidate differences in cortical gray matter volume, surface area, and thickness. Gray matter volumes in subcortical regions were examined to ascertain differences in subcortical volume.

Results: In females with FXS, cortical volume was greater bilaterally in the occipital pole and smaller in the right postcentral gyrus. Seven regions demonstrated lower surface area in participants with FXS, while cortical thickness was significantly greater over the posterior and medial surfaces in the group with FXS. Subcortical region of interest analyses demonstrated greater volume in the caudate nucleus, globus pallidus, and nucleus accumbens in the group with FXS. Global gray matter volume, pial thickness, and surface area were associated with behavioral outcomes in the group with FXS but not in the comparison group.

Interpretation: Females with FXS demonstrated unique cortical and subcortical gray matter anatomy relative to a matched comparison group. These findings may be relevant to the pathogenesis of the FXS behavioral phenotype and provide insights into behavioral interventions targeted to this population.

Aim: To analyse the effects of an individualized telehealth home programme on the performance of functional goals of children and adolescents with cerebral palsy (CP) during the COVID-19 pandemic.

Method: A prospective single-group intervention study with children/adolescents with CP (n = 144; median age = 92 months [Q₁ = 44.0, Q₃ = 148.8]; 74 males, 70 females), representing all Gross Motor Function Classification System (GMFCS) levels participated in a 4-month home programme in Brazil. An interdisciplinary team encouraged families to choose a functional goal to be trained. The Canadian Occupational Performance Measure (COPM) was used at pre-intervention (T₁), post-intervention (T₂), and 3-month follow-up (T₃). The differences in COPM scores at T₁, T₂, and T₃ were evaluated using Friedman's test. The effect size was calculated using Cohen's d. Univariate analysis was included.

Results: Significant improvements were observed after the intervention, with maintenance of scores after 3 months (p < 0.001, d_performance = 1.33; d_satisfaction = 1.31). None of the tested variables (child's abilities, age, caregiver's educational level, perception of family-centredness, and type of goal) were significantly related to the change scores.

Interpretation: The individualized remote telehealth home programme can be a potential intervention, especially for children with CP classified in GMFCS levels IV and V. Also, this intervention provided a possible solution to help some children and their families in performing prioritized functional goals during the pandemic period.