Developmental Medicine and Child Neurology最新文献

Aim: To describe the phenotypic spectrum associated with stuttering.

Method: Individuals with current or resolved developmental stuttering self-referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non-verbal intelligence were assessed using conversation and the Wechsler standardized scales. Sample sizes varied across assessments (n = 266-327). Latent class analysis identified unobserved groups based on assessment data.

Results: A total of 327 participants (231 male, 71%) with a median age of 57 years (range: 5-90 years) were recruited, 282 of 296 (95%) with current stuttering and 14 of 296 (5%) with resolved stuttering. Onset was 4 years or younger for 187 of 322 (58%) participants; 207 of 325 (64%) had a positive family history of stuttering, 58 of 325 (18%) had developmental delay, and 38 of 264 (14%) had below average non-verbal intelligence. Common co-occurring conditions included sleep, hearing, vision, and immune conditions, migraine, anxiety, and depression. Analysis revealed two groups: 295 of 327 (90%) participants had the common phenotype and 32 of 327 (10%) had a complex phenotype, with more severe stuttering, greater negative impact of stuttering, more frequent anxiety, lower non-verbal intelligence, and neurodevelopmental disorders.

Interpretation: Phenotypic analysis of a large cohort of who stutter identified 90% with a common phenotype and 10% with a complex phenotype. Both had co-occurring disorders requiring multidisciplinary support.

Aim: To implement the Hammersmith Infant Neurological Examination (HINE) in the low-resource setting of Ethiopia using the Knowledge-to-Action Framework, report on the percentage of infants classified as having cerebral palsy (CP) or a high probability of CP, and evaluate age at CP detection and referral.

Method: Implementation strategies were identified using the Knowledge-to-Action Framework. Paediatric staff and residents received HINE training and administered it in selected clinics. Based on the HINE global score, infants were classified into (1) above the 10th centile score (accepted score), (2) between the 10th centile and a high probability of CP cut-off score, and (3) below the high probability of CP cut-off score. Age at CP detection and referral were assessed.

Results: Ninety-eight infants with CP risk factors were classified on clinical reasoning and the HINE global score; 48 (49%) scored above the HINE 10th centile score, 15 (15%) fell into the 'developmental monitoring and coaching' category, and 35 (36%) scored below the high probability of the CP cut-off score. The mean age of children in the third category who received a diagnosis of CP or high probability of CP was 10.6 months (SD = 6.6, range = 3-23 months). All were referred to rehabilitation centres at the time of diagnosis.

Interpretation: Implementing the HINE in Ethiopia enabled detection of CP or high probability of CP in children aged under 12 months and timely referral to rehabilitation services.

Aim: To explore the utility of a commonly used transition readiness assessment tool (Transition Readiness Assessment Questionnaire [TRAQ]) among adults with cerebral palsy (CP) and caregivers.

Method: This was a qualitative descriptive study using 21 semi-structured interviews (seven adults with CP, nine caregivers, five dyads) and matrix analysis.

Results: Participants had many suggested edits to comprehensively assess transition readiness. Several adults with CP expressed that the tool appropriately assessed important skills for entering adulthood. Questions on managing medications and activities of daily living were identified as most relevant. However, caregivers found it difficult to answer questions as a caregiver and not the patient and felt that the tool was less applicable because they had been managing their child's needs for years. Distinguishing physical versus cognitive abilities presented another challenge because several participants noted that they or their child cognitively knew how to do certain tasks but were limited physically.

Interpretation: Assessing transition readiness is an important part of the transition to adulthood. Individuals with CP have a wide range of abilities that may not be adequately captured by TRAQ. A CP-specific tool should be sure to distinguish between these varied abilities and clearly delineate the caregiver role for young people with varying levels of support needs.

Aim: To describe parental perspectives on how heatwaves and high ambient temperatures influence seizure activity in children and adolescents with Dravet syndrome and to examine coping strategies families employ.

Method: A descriptive qualitative study was conducted using purposeful, non-probabilistic sampling. Nineteen parents of children and adolescents with Dravet syndrome were interviewed in-depth. Inductive thematic analysis was performed using MAXQDA software.

Results: Three themes emerged: (1) seizure worsening with high ambient temperatures; (2) additional temperature-related triggers; and (3) parental coping strategies. Parents reported that heatwaves and high temperatures increased seizure frequency, intensity, and duration. Abrupt temperature shifts and water exposure (e.g. swimming) were cited as additional triggers. Parents used thermoregulatory measures-light clothing, cool indoor environments, restricted outdoor activity-and empirical antipyretic use to mitigate seizure risk.

Interpretation: This research highlights the aggravating role of heatwaves and how parents implement thermoregulation strategies. These findings inform clinical guidance for managing Dravet syndrome during extreme heat, and emphasize the need for further research into the prevention of heat-related seizures.

Aim: To identify the barriers and facilitators that shape how clinical gait analysis (CGA) informs family decision-making in different contexts.

Method: A qualitative descriptive study design was chosen to explore the current clinical landscape. Semistructured interviews were conducted with 15 healthcare professionals and eight caregivers (n = 23) from three pediatric rehabilitation centers in Quebec, Canada, that provide CGA to children with cerebral palsy. Data were analyzed thematically with an inductive approach using NVivo software.

Results: Key barriers include a lack of structure, limited financial and human resources, and restricted access to CGA. The primary facilitators are healthcare professionals and caregivers who aim to enhance the care process by more effectively integrating CGA. Other common topics include the benefits of care management with CGA and the need to clarify the expertise required to ensure the optimal functioning and clinical application of a gait laboratory.

Interpretation: Participants emphasized the importance of addressing disparities, securing institutional support, and promoting intercenter collaboration to achieve sustainable improvements in the care of ambulatory children with cerebral palsy.

Aim: To examine the persistent barriers and facilitators to rehabilitation uptake among children with cerebral palsy (CP) in rural Bangladesh, with focus on engagement in therapy and self-management, and beyond the context of attendance.

Method: This qualitative phenomenological study was conducted in four subdistricts of Sirajganj, Bangladesh. In-depth interviews were conducted with caregivers of children with CP registered in the Bangladesh CP Register and rehabilitation professionals recruited purposively from Sustainable Model of eARly intervention and Telerehabilitation for children with Cerebral Palsy (SMART-CP) centres. Interviews were transcribed, translated, and analysed thematically using an inductive approach.

Results: Between November and December 2022, 45 caregivers and eight rehabilitation professionals were interviewed. Three key themes emerged: (1) financial and logistical resources, including poverty, transport difficulties, and competing demands; (2) emotional burden, intensified by social stigma and negative family attitudes, and caregiver loss of hope in adequately supporting their child; (3) self-efficacy, where caregiver education, coaching, and belief in therapy facilitated engagement. Local, affordable services, family and peer support, and community awareness further enabled rehabilitation uptake, which varied across families and over time.

Interpretation: Children with CP and their caregivers in rural Bangladesh face persistent barriers to accessing rehabilitation. Interventions that enhance local service provision, staff training, and caregiver support may improve rehabilitation engagement and health outcomes. Enhanced livelihood support and expanded training opportunities may further strengthen rehabilitation uptake.