Developmental Medicine and Child Neurology最新文献

Therapeutic hypothermia is an effective therapy for moderate-to-severe hypoxic-ischemic encephalopathy (HIE) in infants born at term or near-term in high-resource settings. Yet there remains a substantial proportion of infants who do not benefit or who will have significant disability despite therapeutic hypothermia. Novel investigational therapies that may confer additional neuroprotection by targeting known pathogenic mechanisms of hypoxic-ischemic brain injury are under development. This review focuses on putative neuroprotective agents that have shown promise in animal models of HIE, and that have been translated to clinical studies in neonates with HIE. We include agents that have been studied both with and without concurrent therapeutic hypothermia. Our review therefore addresses not just neonatal HIE in high-resource countries where therapeutic hypothermia is the standard of care, but also neonatal HIE in low- and middle-income countries where therapeutic hypothermia has been shown to be ineffective, and where the greatest burden of HIE-related morbidity and mortality exists.

Aim: To describe the experiences of children with self-injurious behavior (SIB) through the lens of family caregivers to inform the development of relevant interventions.

Method: SIB in children with autism spectrum disorder is challenging to understand and manage. Furthermore, our understanding of the impact of SIB on families is limited. We performed an exploratory qualitative study using interpretive description methodology. Semi-structured one-on-one interviews were conducted as the primary data collection technique. A purposive convenience sampling technique was used for the recruitment of participants through several clinics at one institution. Enrollment continued until 12 participants were recruited, at which time consensus was reached by the study team that sufficient data had been obtained to develop a depth of understanding of key elements of the caregiver perspective. Data were then analysed using a thematic analysis approach to develop overarching themes.

Results: Three main themes were developed from the analysis of the data: the pervasive impact of SIB; lack of resources to turn toward; and the presence of silver linings. Participants described in some detail the many elements of their children's condition that led to a pervasive impact far beyond the child themselves. This experience was augmented by stigma and the lack of available resources. Despite these challenges, there was a strong sense of resilience and hope.

Interpretation: Our study provides insights into the patterns of experiences of family caregivers of children with SIB. These results have far-reaching implications ranging from the clinical need for enhanced care and collaboration with affected families, the call for researchers to further develop effective treatments, and lastly highlighting the need to work with policymakers to advocate for resources to support children with SIB and their families.

Aim: To investigate the effect of selective dorsal rhizotomy (SDR) on an integrated outcome set 1-year post-SDR, in a cohort of children with spastic cerebral palsy (CP).

Method: Fifteen children with bilateral spastic CP (median age 8 years 8 months [interquartile range 3 years 3 months], 11 males, four females, eight in Gross Motor Function Classification System (GMFCS) level II, seven in GMFCS level III) were measured pre- and 1-year post-SDR. Clinical scales and goniometry assessed plantar flexor spasticity, range of motion, strength, and selectivity. Spasticity was also quantified via an instrumented assessment. Medial gastrocnemius macroscopic muscle morphology (absolute and normalized muscle belly, tendon and muscle-tendon unit length, cross-sectional area, muscle volume) was assessed using ultrasound. Gait profile score, ankle and knee gait variable scores, walking speed, cadence, and step length were extracted from gait analysis. Gross motor function was assessed using the Gross Motor Function Measure-66 item set. Wilcoxon signed-rank test was used to analyse pre- and post-SDR changes. A reference database was used to qualitatively judge muscle growth post-SDR with respect to muscle growth of children with spastic CP without SDR intervention.

Results: Significant changes (p < 0.05) were seen for spasticity, selectivity, all absolute morphology parameters, normalized tendon and muscle-tendon unit length, and all gait parameters, except walking speed and cadence. Muscle growth of children with and without SDR was comparable.

Interpretation: SDR is an effective spasticity reducing treatment and does not adversely affect natural muscle growth in spastic CP.

After conceiving through assisted reproductive technologies (ART), parents may present to their pediatrician with concerns related to their child's neurodevelopment, including whether their child's health may be related to their use of ART. Pediatricians may be unfamiliar with the ART process and what the families endured up to this point, resulting in difficulty counseling parents through these discussions. Before presentation to the pediatrician, parents have undergone extensive evaluation with reproductive endocrinologists. During counseling, the reproductive endocrinologist provides information on maternal and childhood risks associated with ART. However, in this rapidly evolving field, providing comprehensive, patient-centered, informed consent is increasingly complex and counseling patients properly can be challenging. When parents have gone through the proper informed consent process, and when the pediatrician has an understanding of what this process entails, care of the child can be optimized. In this review, we discuss the complexities of the prenatal informed consent process that parents navigate before presenting to pediatricians. We emphasize the importance of these discussions and highlight ethical principles, as well as emotional, medical, legal, and financial stressors that parents face during ART, with the belief that this understanding will improve the care that pediatricians subsequently provide.

Aim: To examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1-related disorder), a mixed group of other neurodevelopmental genetic syndromes (NDGS), idiopathic neurodevelopmental disorder, and neurotypical control participants.

Method: Using a longitudinal case-control design, caregivers reported neurobehavioral information for 498 participants (PTEN hamartoma tumor syndrome n = 112, Malan syndrome n = 24, SYNGAP1-related disorder n = 47, other NDGS n = 72, idiopathic neurodevelopmental disorder n = 54, neurotypical siblings n = 74, and unrelated neurotypical control participants n = 115) at three timepoints (baseline, and 1-month and 4-month follow-ups) using the online-administered Neurobehavioral Evaluation Tool (NET).

Results: NET scales had good scale and test-retest reliability. Unique patterns of neurobehavioral findings emerged, with SYNGAP1-related disorder and Malan syndrome showing generally more severe symptom and skill patterns than for other groups of patients. Patterns could be partly accounted for by estimated cognitive level, speech level, and the presence of autism spectrum disorder. However, even when accounting for these factors, group differences remained. Reliable change indices are reported.

Interpretation: Genetic syndromes associated with neurodevelopmental disorders present with unique neurobehavioral profiles that can inform selection of outcome measures in future clinical trials. The NET may be a useful screening and monitoring instrument in clinical practice, where frequent in-person clinic attendance is difficult for many patients.