Developmental Medicine and Child Neurology最新文献

Chronic pain is common for children and young people with cerebral palsy (CP), but it is often difficult to assess because many existing tools are not designed for people with different communication or cognitive abilities. This study looked at two new questionnaires designed specifically for people with CP: the Pain Interference Questionnaire for Cerebral Palsy (PIQ-CP) and the Fear of Pain Questionnaire for Cerebral Palsy (FOPQ-CP). These tools ask about how pain affects daily life, and about pain-related fear and activity avoidance.

We tested these questionnaires with 128 people with CP, aged between 5 and 30 years. Four out of five participants were able to answer for themselves, including many with different communication or thinking abilities. One in 10 needed their parents to answer alongside them as there were concerns about their self-report accuracy, and one in 10 could not self-report at all and required parent-report only, usually due to more severe cognitive impairment.

Our results showed that both questionnaires worked well. They were reliable and consistent in measuring what they were supposed to measure. Importantly, the questionnaires could be completed by a wide range of people with CP.

This research matters because it shows that people with CP can share their own experiences of pain more often than previously thought, even when communication or learning differences are present. These tools give children, young people, and adults with CP a stronger voice in their care and help healthcare providers better understand how pain impacts their lives.

This research looked at brain scans/magnetic resonance imaging (MRI) and long-term development in 65 infants diagnosed with rare inherited conditions called organic acidemias before their first birthday. Organic acidemia refers to a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids. The most common type in the infants studied was methylmalonic acidemia combined with homocysteinemia (combined MMA). We wanted to see if specific patterns on the brain scans could help doctors understand the diagnosis and predict how children might develop.

The study showed different scans for different conditions: infants with different types of organic acidemia often had distinct patterns on their MRI. Infants with combined MMA frequently showed brain atrophy (seen in 50%) and fluid build-up in the brain (hydrocephalus, seen in 43%). Infants with propionic acidemia or glutaric aciduria type I (GA1) often had changes in deep brain areas (thalamus and basal ganglia, 83% and 75% respectively). All infants with GA1 showed widening of the spaces around the brain.

Development challenges: most children (68%) had significant long-term problems with their development.

Predicting outcomes: while many brain scan changes were linked to poorer development, damage to the brainstem (a critical area in the brain) was a particular warning sign. Babies with brainstem changes were much more likely to have severe developmental problems.

Early detection matters: some infants diagnosed before symptoms started (through newborn infant screening) had better outcomes, highlighting the importance of early detection.

Treatment helps: good medical care, including surgery for hydrocephalus when needed, helped some infants achieve much better development than might have been expected.

Aim: To understand how families and therapists perceived their participation in an individualized home telehealth programme implemented for children and adolescents with cerebral palsy (CP) during the COVID-19 pandemic in Brazil.

Method: This was a descriptive qualitative study that included 13 families of children and adolescents with CP (classified in Gross Motor Function Classification System levels IV and V) and 20 therapists, who participated in an individualized home telehealth programme. Semi-structured, online interviews were carried out with participants after completing the intervention to understand their expectations, challenges, and benefits, and to gather suggestions for future services. The interviews were transcribed for thematic analysis.

Results: The three themes were (1) fear of the unknown, (2) new pathways, and (3) benefits and future perspectives. Participants recognized that active family engagement during the intervention, the establishment of individualized goals, and communication between parents and therapists led to changes in children's involvement, family routines, and parental empowerment regarding their children's rehabilitation process.

Interpretation: The establishment of a partnership between therapists and families, by combining technical knowledge and living experience, contributed to the successful implementation of the intervention. Future actions may involve the adoption of hybrid intervention models focused on the specific needs of families of children and adolescents with CP.

The LEAP (Learning through Everyday Activities with Parents) screening study looked at how a culturally-adapted developmental screening program can help identify Australian First Nations babies who may need extra support in their first year of life. Babies who are born early or have medical complications are more likely to experience developmental concerns or disabilities such as cerebral palsy (CP), autism, or fetal alcohol spectrum disorder (FASD).

To support early identification, we worked closely with First Nations communities, families, and researchers to co-design a developmental screening program called LEAP. The program was added into existing health services to support continuity of care and aimed to improve First Nations families' access to culturally-responsive care that respects their culture and values.

At 12 months, babies were assessed again to see how their movement, thinking, learning, and talking skills were developing. The study found that the MOS-R and HINE were especially useful in identifying babies whose skills were developing typically or ‘on track’ and those showing early signs of CP, autism, or FASD. When used together, these tools correctly classified developmental abilities for 3 in every 4 babies.

The authors introduce the three-dimensional nature of spine pathoanatomy, where the deformity occurs in all three anatomic planes involving different functional and structural regions of the spine (cervical, thoracic, lumbar, and sacrum/pelvis). Scoliosis is the projection of the deformity onto the coronal plane, kyphosis/lordosis is the projection of the deformity onto the sagittal plane, and torsion/rotation is the projection of the deformity onto the axial plane. Spine development is examined from in utero to skeletal maturity, highlighting how the pubertal growth spurt accelerates deformity progression in adolescence, and also considers issues of adults with distorted spines during aging. The authors explain how spine deformity is classified according to the cause (congenital, neuromuscular, syndromic, or non-idiopathic spinal cord malformations) and age at onset (early – infantile or juvenile and later – adolescent).

Common signs and symptoms of spine pathoanatomy that parents and care providers should notice are outlined and the importance of timely referral to a spine specialist is emphasized. Creating an effective treatment plan is predicated on a comprehensive medical history, physical exam, and imaging studies that includes multi-planar spine radiographs with or without magnetic resonance imaging to visualize all relevant musculoskeletal pathology. For each category of spine deformity, the book is structured to guide readers through the various treatment modalities, the selection based on the underlying diagnosis, patient age, anatomic location, severity of deformity, and coexisting medical comorbidities.

Chapters 6 through 9 are dedicated to an overview of therapies, covering both nonsurgical options (observation, bracing, casting, physical therapy, alternative treatments) and surgical interventions (spinal fusion, growth-friendly spine instrumentation, halo gravity traction). Chapter 9 delves into specific considerations relevant to congenital, neuromuscular, syndromic, or non-idiopathic cord abnormalities. A unique aspect of this book is the inclusion of the lived experiences of children with scoliosis and their families. Complementing the didactic medical information, personal stories are interspersed throughout the text, offering a human dimension to this disorder.

Scoliosis: Congenital, Neuromuscular, Syndromic, and Other Nonidiopathic Types serves as a vital educational resource for patients, their families, and healthcare professionals alike, emphasizing evidence-based best practices and providing guidance for exploring the literature and further research. Beyond the pragmatic medical information provided, the text underscores the critical partnerships among patients, their families/caretakers, and healthcare professionals in optimizing outcomes for individuals living with this lifelong condition.

Epilepsy is a serious disease that causes repeated seizures and often affects children inclusive of their development. Causes vary from genetic to structural brain changes to even infections. In South Africa, and across sub-Saharan Africa, epilepsy is very common, but families often face barriers to diagnosis and treatment due to limited access to resources and health care. There is also less research on childhood epilepsy in these settings, compared to higher-income countries. This study explored the use of two new tools, mobile health (mHealth) technology with wearable wristband devices and genetic testing, in the care for children with epilepsy which does not respond to standard treatments.

We worked with 39 children at the Red Cross War Memorial Children's Hospital in Cape Town, South Africa. Caregivers (usually parents) used a phone app to track seizures, medication use, sleep quality, physical activity, and quality of life, and a wristband device to measure activity and sleep. We also used genetic testing to see if we could find genetic causes of their epilepsy and whether their genetic variant would be responsive to specific medication (pharmacogenetics).

We found that the app recorded fewer seizures than recorded in the doctor's hospital record notes, but was able to provide more detail about the type and timing of seizures. It is often difficult to recall the number and duration of seizures when follow-up appointments are many months apart, even when keeping seizure diaries. The wristband devices also showed that the children were much less active, and got less overall sleep and deep sleep, when compared with other children their age. In about 1 in 8 children, we found genetic changes which could explain their epilepsy, including in important genes that were known to affect epilepsy, such as SCN1A and GRIN2A, and possible new mutations in GABRG2 and GRIN2B. These mutations can affect the function of receptors in brain cells, causing them to be more excitable and more likely to lead to seizures. Some of these genetic changes were new and had never been recorded before. Some children had genetic differences that may affect how their bodies respond to certain epilepsy medicines, such as changes in the genes of liver enzymes that process medication.

This was the first study of its kind in Africa. It showed that mHealth and genetic testing are possible in a public setting, although resources are limited and challenges remain. These tools also helped families and their doctors get a clearer picture of the children's daily lives and health, which is not always possible in busy clinics with short appointment times. This could lead to more personalized treatment for the individual children and their families.

Aim: To describe the incidence, prevalence, and prognostic factors for gastroenterological disorders and hepatic disease in adults with cerebral palsy (CP), and to examine the effectiveness of any screening or interventions.

Method: Six databases were searched for articles published in any language since 1990 meeting eligibility criteria, defined for each of five objectives. Two independent reviewers screened study titles, abstracts, and full texts for inclusion.

Results: Thirty-two reports of 30 unique samples, including 10 to 16 818 adults, were identified. Twenty-five reported prevalence of at least one of the following: gastroesophageal reflux disease (GERD) (prevalence 3%-42%; seven studies), constipation (4%-67%; seven studies), dysphagia (6%-77%; 12 studies), fecal incontinence (6%-29%; three studies), dental/oral cavity disorders (25%-53%; five studies), and aggregated hepatic diseases (1%-6%; seven studies). The prevalences of GERD, dysphagia, and hepatic disease were higher in adults with CP than in those without. The prevalence of fecal incontinence was greater in people classified as having CP in higher Gross Motor Function Classification System levels. No incidence studies were identified. Four intervention studies addressing oral/dental health or dysphagia were found, but certainty of evidence was low to very low.

Interpretation: The prevalence of specific gastroenterological disorders and hepatic disease varies across studies in adults with CP. Evidence for intervention efficacy in their management is of very low quality to absent.

Developmental coordination disorder (DCD) is a common condition that affects about 5% to 6% of school-aged children worldwide. Children with DCD have motor difficulties that make everyday tasks such as dressing, writing, or participating in sports, much harder. These challenges cannot be explained by other medical or developmental conditions and often persist into adolescence and adulthood, affecting learning, confidence, and quality of life.

Early recognition is critical as timely support can help children develop skills and reduce later difficulties. However, DCD is often missed in early childhood, as motor problems may appear subtle and health systems usually rely on parents or teachers to raise concerns leading to delays in diagnosis and support.

Our study aimed to improve early identification of DCD. We developed a screening tool that predicts a child's risk of DCD using information routinely collected in health and family records, such as birthweight, gestational age, parental education, family structure, and body mass index. These factors reflect both biological and environmental influences on motor development, aligning with a bio-ecological model of DCD. The tool was built using data from over 150 000 children aged 3 to 5 years and externally tested on more than 1300 children aged 3 to 10 years, including those clinically diagnosed with DCD. Importantly, the model performed well in the preschool group and was also able to prospectively predict DCD in older children (6–10 years), demonstrating its usefulness for longer-term risk prediction.