Developmental Medicine and Child Neurology最新文献

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.

Aim: To systematically review the psychometric properties of the Alberta Infant Motor Scale (AIMS) when used for infant populations internationally, defined as infants not living in Canada, where the normative sample was established.

Method: Seven databases were searched for studies that informed the psychometric properties of the AIMS and culturally adapted or translated versions in non-Canadian infant cohorts.

Results: Forty-nine studies reported results from 11 663 infants representing 22 countries. Country-specific versions of the AIMS are available for Brazilian, Polish, Serbian, Spanish, and Thai infant cohorts. Country-specific norms were introduced for Brazilian, Dutch, Polish, and Thai cohorts. The original Canadian norms were appropriate for Brazilian, Greek, and Turkish cohorts. Across countries, the validity, reliability, and responsiveness of the AIMS was generally sufficient, except for predictive validity. Sufficient structural validity was found in one study, responsiveness in one study, discriminant validity in four of four studies, concurrent validity in 14 of 16 studies, reliability in 26 of 26 studies, and predictive validity in only eight of 13 studies.

Interpretation: The use of the AIMS with validated versions and norms is recommended. The AIMS or country-specific versions should be used with caution if norms have not been validated within the specific cultural context.

Aim: To determine the proportion of persons with cerebral palsy (CP) with major congenital anomalies, factors associated with the presence of anomalies, body systems involved, potential contribution to CP aetiology, and causal pathway subgroups implicated.

Method: This population-based, observational study involved a cohort of 2238 persons born in one Australian state between 1999 and 2017. Major congenital anomalies were classified as affecting cerebral, cardiac, or other body systems, with further categorization as single or multisystem. We determined the potential for anomalies to contribute to the development of CP across causal pathway subgroups that were broadly categorized as developmental or involving destructive brain insults.

Results: Of persons with CP, 23% had major congenital anomalies and 17% of the cohort had anomalies that potentially contributed to the development of CP. Consistent with higher odds of parental consanguinity, maternal grand multiparity, and dysmorphic features in the group with anomalies, 82% of pathogenic anomalies, present in 14% of the cohort, were cerebral and involved developmental causal pathways. Only 3% (predominantly severe cardiac anomalies) were related to destructive brain insults.

Interpretation: The study provides context for the impact on rates of CP of preventive measures or other changes in incidence or management of congenital anomalies.

Aim: To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.

Method: This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.

Results: A total of 139 children followed by 12 highly specialized tertiary care neuromuscular centres in Italy and one tertiary neuromuscular centre in the USA were included: 105 children with CDM and 34 children with ChDM (mean age 8 years 8 months and 12 years 2 months respectively; 49 males and 17 males respectively). Seventy (50%) parents were diagnosed with adult-onset DM1 after the affected child was diagnosed. Only 12 (17%) of the 69 parents known to be affected had prenatal testing. Of the 105 children with CDM, 98% had maternally inherited CDM, 36% were born preterm, 83% required a stay in the neonatal intensive care unit for more than 48 hours, 84% and 79% had ambulation and speech delay, and 84% had an IQ lower than 70. Of the 34 children with ChDM, 59% had paternally inherited ChDM, 91% were born at term, and 36% had an IQ lower than 70.

Interpretation: Delay in diagnosing DM1 affects family planning. The prenatal and perinatal outcomes of the affected offspring emphasize the need for proactive counselling as parents may be reluctant to conduct prenatal testing.