Developmental Medicine and Child Neurology最新文献

Aim: To determine the feasibility of combining the Hammersmith Infant Neurological Examination (HINE) and General Movements Assessment (GMA) within a standard follow-up schedule to predict developmental outcomes in infants at risk in low- and middle-income countries (LMICs).

Method: A total of 201 Sri Lankan infants (128 male, 73 female) were prospectively assessed with the GMA before 44 weeks (writhing movements) and at 3 to 4 months (fidgeting movements), followed by the HINE at 5 to 6 months. Developmental outcomes were assessed using the Bayley Scales of Infant and Toddler Development, Fourth Edition and clinical assessment after 24 months.

Results: The sensitivity of predicting cerebral palsy (CP) was lower with a single GMA assessment (writhing 89.5%, fidgeting 94.7%) or HINE (89.5%) compared to all three assessments combined (sensitivity 100%, 95% confidence interval [CI] = 82.4-100.0). The GMA and HINE were less predictive of non-CP-related developmental delays, particularly when single assessments were used (< 65% for all domains) compared to all three assessments combined (motor sensitivity > 86.9%, 95% CI = 66.4-97.2; cognitive sensitivity > 86.7%, 95% CI = 69.3-96.2; social-emotional sensitivity > 83.3%, 95% CI = 65.3-94.4). Specificity was lower for the prediction of CP-related (40.1%) and non-CP-related developmental delays (< 46.0% for all).

Interpretation: In an LMIC such as Sri Lanka, with limited access to specialist care and neuroimaging, combining two GMA measures and the HINE identified most infants with CP-related and non-CP-related developmental delay, thereby allowing targeted early intervention therapies.

In this study of two birth cohorts from Finland and Norway, the ‘Helsinki Study of Very Low Birth Weight Adults’ and the ‘NTNU Low Birth Weight in a Lifetime Perspective’ cohorts, the authors investigated motor abilities in adults born preterm (<37 weeks' gestation) with very low birthweight (VLBW; birthweight ≤1500 grams). Previous studies have shown that children, adolescents, and young adults born preterm are more likely to experience motor difficulties than their peers. However, it has not been clear if these difficulties persist later in adulthood.

A total of 118 participants born with VLBW and 147 participants born at term were included. Four motor tests were used to measure different aspects of motor function at the mean age of 36 years. The results showed that the adults born preterm with VLBW scored poorer on all motor tests compared with controls, especially on timed performances and tasks demanding speed. The results were similar when factors that might influence motor abilities were considered, such as height, handedness, parental education, and neurosensory impairments (cerebral palsy, blindness, deafness or hearing aid, and/or intellectual disability).

Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.

Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation. Patient-specific scores were stable across visits with evidence of modest gains in early childhood and static skills in adolescence and adulthood.

Interpretation: There is a poor prognosis in terms of multiple measures of age-appropriate development.

Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID). In older children, a less understood phenomenon known as sudden unexplained death in childhood (SUDC) has garnered attention. Additionally, sudden unexpected death in epilepsy (SUDEP) constitutes a rare but recognized complication of epilepsy. Recent investigations indicate overlapping clinical, neuropathological, and genetic characteristics among SUID, SUDC, and SUDEP. Common features include death occurring during sleep, discovery in the prone position, hippocampal abnormalities, and genetic variations associated with epilepsy or cardiac arrhythmias. Notably, video recordings in certain examples of SUDC have captured 'convulsive' episodes preceding death in children without prior seizure history, suggesting that seizures may contribute more significantly to sudden paediatric deaths than previously presumed. This review explores these shared elements, underscoring their importance in formulating possible preventative measures against these devastating conditions.

Aicardi-Goutières syndrome (AGS) is a childhood disease particularly affecting the brain. There is a close link between AGS and increased amounts of a chemical called interferon. Interferon is normally only produced following viral infection. In AGS there is no viral infection. Rather, an affected individual's cells are confused into thinking that their own genetic material comes from a virus, so that they produce interferon continuously. This interferon acts as a poison that damages cells. An obvious way then to treat AGS would be to reduce interferon production.

In 2018, a clinical trial was published involving the use of drugs called reverse transcriptase inhibitors (RTIs) in AGS. It was predicted that RTIs might block the production of ‘self-derived’ genetic material that was triggering interferon production in patients with AGS. Using these RTIs, interferon levels fell, and then increased again when the drugs were stopped. Based on these findings a new trial was designed using these same drugs given individually and in combination, again monitoring their effect on interferon levels. This trial, funded by the Medical Research Council, involved doctors in Edinburgh, Birmingham, Manchester, and London, and was open to patients under 16 years of age with specified genetic forms of AGS.

Developmental coordination disorder (DCD) is a condition where children have a harder time developing motor skills (e.g. balancing, catching). It is known that school-aged children with DCD get less physical activity than their peers. What isn't known is if this starts even earlier in preschool-aged children. The goal of this study was to compare the physical activity of preschoolers with typical motor development to those with probable DCD (pDCD) and those at risk for DCD (DCDr).

To test this, 497 preschoolers (4–5 years) joined the Coordination and Activity Tracking in CHildren study. They had repeated motor tests and wore an activity monitor for 1 week. Using the activity monitor, the authors looked at their physical activity using a machine learning tool. From the tool, they could tell how much time the children spent being sedentary (e.g. sitting, lying), doing light physical activity (e.g. floor games), doing moderate-to-vigorous physical activity (e.g. running, hopping), walking, and running.

The authors found that preschoolers with and without motor impairment spent the same amount of time each day in sedentary, light, and moderate-to-vigorous physical activity. However, preschoolers with motor impairment (pDCD and DCDr) spent less time walking and running.

There are more than 50 million children with developmental disorders, like autism, cerebral palsy, and intellectual disability. Identifying strategies for improving access to evidence-based treatments and therapies is a priority worldwide. This article completed a research review on training programs for caregivers of individuals with developmental disorders. The aim of the review was to see how effective programs that teach caregivers specific skills are for helping individuals with developmental disorders.

To complete our review, we looked at existing studies published through July 2021. We found 75 randomized controlled trials of caregiver training programs. These studies included 4746 individuals with developmental disorders and their caregivers. The studies were conducted across the world in higher-income countries, like the USA and Australia, as well as lower-income countries, like Türkiye and Vietnam. We found positive findings in all settings. By combining the results of these trials, we found that the programs were effective for both children and caregivers. Children benefitted by improvements in development and in a reduction of problem behavior. Caregivers benefitted from enhanced skills and psychological well-being. Improvements in interpersonal family relationships were also found.

Overall, the findings from the review suggest that training programs for caregivers of children with developmental disorders can be an effective treatment across a variety of settings. This treatment should be considered when developing plans for aiding children with developmental disorders worldwide.