Developmental Medicine and Child Neurology最新文献

Aim: To investigate the relationship between quality of general movements and neurodevelopmental outcomes in 2-year-old infants born very preterm (VPT).

Method: This was a retrospective cohort study including infants born before 32 weeks' gestation. General movements video recordings at 3 months corrected age were assessed with the Motor Optimality Score-Revised (MOS-R) and child cognitive, language, and motor development at 2 years with the Bayley Scales of Infant and Toddler Development, Third Edition.

Results: The study included 316 infants (52.5% male, mean [SD] gestational age 28.7 [2.3] weeks, birthweight z-score -0.14 [0.85]). The median MOS-R total score was 23. The mean cognitive composite, language, and motor scores were 102.0 (15.4), 92.1 (16.1), and 95.8 (15.3) respectively. Higher MOS-R total scores were related to better cognitive (p = 0.025) and motor development (p = 0.042). However, associations weakened when controlling for socioeconomic status, gestational age, birthweight, sex, and number of severe neonatal morbidities (i.e. severe brain lesion, necrotizing enterocolitis, sepsis, bronchopulmonary dysplasia, and retinopathy of prematurity).

Interpretation: While the quality of general movements at 3 months corrected age is associated with the infant's cognitive and motor development at 2 years corrected age, it might have no incremental predictive power beyond socioeconomic status and the number of severe neonatal morbidities.

Neonatal hypotonia presents a complex diagnostic challenge that requires timely, structured evaluation to identify underlying causes and initiate appropriate care. A narrative review was conducted based on a targeted search of PubMed and major clinical guidelines, focusing on recent advances in the diagnosis of early-onset hypotonia, spanning from clinical to new genetic tools, while also exploring different aspects of management, including new advanced therapies. A structured clinical assessment remains fundamental, especially where access to advanced investigations is limited, and can help the clinician to select the appropriate investigations to achieve a definite diagnosis. Rapid genomic technologies, including exome and genome sequencing, have significantly improved diagnostic yield. Early detection of treatable conditions can enable timely initiation of intervention. Integrating bedside assessment with genomic tools can accelerate diagnosis and improve outcomes, thus facilitating early intervention.

Aim: To characterize language outcomes at age 7 years after neonatal arterial ischaemic stroke (NAIS) and identify language profiles and determinants.

Method: This prospective longitudinal cohort study included 70 children (44 males) from a French cohort with NAIS. Oral language (phonology, lexicon, syntax) was assessed using a validated French battery. Data on demographics, environment, lesion, epilepsy, motor status, cognition, schooling, and therapy were collected. A data-driven classification, based on principal component analysis, followed by hierarchical clustering with k-means consolidation, was used to identify the language profiles. Performances were compared to norms and factors were tested using multiple linear regression models.

Results: Four language profiles emerged after excluding three outliers: preserved language (n = 32), very low phono-syntax (n = 7), very low receptive (n = 11), and borderline language (n = 17). A majority of children (56%) showed below-age language abilities. Epilepsy, bilingualism, a family history of language or learning disorders, and lower full-scale IQ were associated with poorer outcomes. Children with more severe impairments more often required school support (n = 18) or specialized education (n = 7). Access to speech and language therapy was mainly driven by the nature of difficulties, especially phonology and syntax, than by their severity.

Interpretation: NAIS leads to frequent and heterogeneous language difficulties at school age, which are influenced by biological, cognitive, and environmental factors. Systematic and complete language assessments are crucial in preschool to ensure early detection, even of subtle deficits, and equitable access to intervention.

Aim: To develop consensus on a core set of standardized outcome measures to be applied to each domain of the previously developed core outcome set for lower limb orthopaedic surgery for ambulant children with cerebral palsy (CP).

Method: This work consisted of the following three steps: (1) a scoping review of the literature to identify previously used outcome measures to assess lower limb orthopaedic surgery of ambulant children with CP; (2) searching the COnsensus-based Standards for the selection of health Measurement Instruments (COSMIN) and PubMed databases to assess the quality of the psychometric properties of outcome measures and feasibility criteria; and (3) a consensus meeting with seven healthcare professionals with expertise in CP research and in the assessment of outcome measure psychometric properties was held in September 2021. Consensus on the outcome measures core set was developed through presentation of the evidence and whole-group discussions.

Results: A combination of clinician-driven and patient-reported outcome measures was considered the most appropriate way to assess the outcome of orthopaedic surgical interventions. Agreement was reached on seven core outcome measures: three-dimensional gait analysis, Edinburgh Visual Gait Scale, Gross Motor Function Measure, Gait Outcome Assessment List, Gillette Functional Assessment Questionnaire, Patient-Reported Outcome Measure Instrument System (pain interference, and fatigue), and Cerebral Palsy Quality of Life for Children questionnaire.

Interpretation: This study recommends a set of core outcome measures for use in research on lower limb orthopaedic surgery for ambulant children with CP. Consistent use of this core set would enhance validity and comparability of future research.

Aim: To identify the standardized instruments used to assess mobility aspects in children and adolescents with autism spectrum disorder (ASD), analyse the quality of their psychometric properties and their level of evidence, and develop a clinical decision map for these instruments.

Method: Articles were screened and study characteristics were extracted. The methodological quality of the selected studies was analysed using the COSMIN Risk of Bias checklist. The quality of evidence for each measurement property was defined using a modified version of the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system.

Results: Eleven instruments were analysed in 11 studies. Of these instruments, three are directed towards performance assessment and eight towards capacity assessment. The selected studies evaluated the psychometric properties of Vineland Adaptive Behavior Scales, Gross Motor Assessment of Children and Adolescents with Autism Spectrum Disorder, Ignite Challenge, Pediatric Evaluation of Disability Inventory Computer Adaptive Test, Miller Function and Participation Scales, Peabody Developmental Motor Scales, Second Edition, Test of Gross Motor Development, Second and Third Editions, Timed Up and Go, Developmental Coordination Disorder Questionnaire, and Movement Assessment Battery for Children, Second Edition. Of these instruments, nine were developed for the evaluation of typically developing children and children with disabilities, and have been validated for the population with ASD (81.8%). The other two instruments (18.2%) were specifically developed for the evaluation of the population with ASD.

Interpretation: Most (56.51%) of the measurement properties of the instruments demonstrated low or very low evidence because of risk of bias and imprecision, reinforcing the importance of further studies to strengthen the validity and applicability of these assessments.

Aim: To inform integrated support by education and health services by comparing hospitalization and school absence rates during primary school in children with and without neurodisability.

Method: In this linked administrative data cohort study, we followed 2 351 589 children born in England between 2003 and 2008 from enrolment in Reception class (age 4/5 years) to the end of primary school (age 10/11 years) using linked hospital and school records, identifying those with hospital-recorded neurodisability before starting school. We described rates of hospital admissions (per 100 person-years at risk) and school absences (percentage of total school days).

Results: Compared with those without neurodisability, the 2.2% of children with neurodisability had higher rates of planned and unplanned hospital admission during primary school (29.0 and 16.6 per 100 person-years at risk respectively, vs 4.3 and 3.7 per 100 person-years at risk) and missed more school days (6.5% vs 4.2%). Among subgroups of children with neurodisability, rates of admission and absence were consistently highest for those with cerebral palsy and lowest for those with high-risk perinatal conditions.

Interpretation: Children with neurodisability have far higher rates of hospital admission and school absence compared with those without neurodisability throughout primary school. A joined-up approach is needed between hospital and school to support children with neurodisability to participate in education.