Developmental Medicine and Child Neurology

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...

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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...

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No abstract text is available yet for this article.

AIM: To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. METHOD: A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies...

AIM: To evaluate the transfer effects of a home-based computerized executive function intervention on non-targeted cognitive functions (visual perception and memory), quality of life (QoL), and participation in children with cerebral palsy (CP), and to determine whether any improvements were maintained 9 months after the intervention. METHOD: Sixty children with CP (aged 8-12 years) were randomly allocated to the intervention (15 females/15 males, mean age 10 years 4 months [SD = 1 years 8 months], age range 8-12 years) or waitlist (control) (15 females/15 males, mean age 10 years [SD = 1 years 9 months], age range 8-12 years) group...

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AIM: To evaluate a group of children with epilepsy and motor speech regression, with the aim of characterizing their speech disorders, electrographic features, and outcomes. METHOD: Children referred to a tertiary developmental epilepsy clinic with epilepsy and motor speech regression were identified retrospectively. A clinical history was taken, and longitudinal speech and cognitive data were recorded. Speech samples were scored for severity and speech features...

The aim of this longitudinal case series was to describe long-term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high-dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12-month intervals for monitoring of disease progression. Patients had commenced high-dose oral riboflavin from the time of genetic diagnosis. Individuals for whom riboflavin supplementation was initiated early after disease onset had better outcomes compared to those in whom diagnosis was delayed...

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...

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...

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...

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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)...

The original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between environmental impact on brain development and CP, recent studies indicate an 11% to 40% incidence of monogenic conditions in patients given a diagnosis of CP. A genetic diagnosis supports the delivery of personalized medicine. In this review, we describe how the Wnt pathway exemplifies our understanding of pathophysiology related to a gene variant (CTNNB1) found in some children diagnosed with CP...

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AIM: To map the ingredients of non-invasive interventions provided to young ambulant children with cerebral palsy. METHOD: Articles were screened and each study's characteristics extracted. The intervention ingredients were described in terms of the Rehabilitation Treatment Specification System and linked to the 'F-words'. Results were interpreted and validated by a patient and public involvement group. RESULTS: Sixty-one papers were included, of which 55...

AIM: To establish expert consensus on key principles for therapist-supported interventions supporting infants born preterm and their families during the transition from neonatal intensive care unit (NICU) to home in the USA. METHOD: A diverse, interdisciplinary panel of experts evaluated the use of key intervention principles. A modified Delphi technique was used to seek opinions from independent and relevant interdisciplinary experts on the clarity of terminology, efficacy, and feasibility of implementing these intervention principles during the NICU-to-home transition...

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