Developmental Medicine and Child Neurology最新文献

Aim: To evaluate the psychometric properties and measurement quality of the Patient-Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis.

Method: De-identified PROMIS PP Mobility items were completed by the caregivers of male patients with DMD, aged 4 to 12 years, as part of standard clinical care at the Nationwide Children's Hospital clinic; data were mined retrospectively from electronic health records. Rasch analysis was used to assess the internal functioning of the measure and items.

Results: Overall, 151 observations were available for the Rasch analysis, equally split between patients aged 4 to 7 years and 8 to 12 years. After removing clinically irrelevant items and regrouping response options for specific items, the resulting 19-item measure demonstrated overall good fit to Rasch model expectations and the ability to discriminate between respondents with different mobility levels (Person Separation Index = 0.95, excellent reliability).

Interpretation: The customized PROMIS PP Mobility measure demonstrated good fit and may be a reliable option for mobility assessment in children with DMD. Rasch analysis can be used by other researchers to improve the sensitivity of patient-reported outcomes in their field of interest.

Aim: To replicate and extend previous psychometric findings for the Autism Symptom Dimensions Questionnaire (ASDQ).

Method: Using a cross-sectional design in two samples, including a total of 3366 children and adolescents (aged 2-17 years; 1399 with autism spectrum disorder) and a small case series, factor structure, measurement invariance, reliability, construct validity, screening and diagnostic efficiency, and detection of reliable change were examined for the ASDQ.

Results: Strong psychometric properties were observed, including replicable factor structure, strong measurement invariance, adequate-to-excellent scale and conditional reliability, strong convergent and discriminant validity, and good screening efficiency. Importantly, two crucial measurement aspects required for a good treatment outcome measure were found, that is, good test-retest stability and the potential to detect reliable change. As expected for an informant-reported questionnaire, diagnostic efficiency was weak.

Interpretation: The ASDQ showed evidence of favorable and well-replicated psychometric properties in two samples. Good screening but weak diagnostic efficiency, coupled with good test-retest stability, suggest that optimal clinical use is in screening and in detailed clinical characterization beyond what is offered by current informant-reported measures, with the potential for monitoring response to intervention. Despite relative brevity, the ASDQ provides good coverage of broad and specific aspects of the autism behavioral phenotype, which is consistent with the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.

Aim: To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood.

Method: Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models. Psychiatric features were evaluated cross-sectionally in the Spanish cohort.

Results: Thirty-eight patients (21 males, 17 females) were evaluated at a mean age (SD) of 10 years (4 years 7 months; range 2-21 years) and 14 years 2 months (4 years 8 months; range 4-25 years). We observed a significant worsening of action myoclonus, global dystonia, and dystonia during writing (mean annual increases of 1.356, 0.226, and 0.518 in the Unified Myoclonus, Burke-Fahn-Marsden, and Writer's Cramp Rating Scales respectively). Accordingly, participants perceived a significant worsening in their speech, writing, and walking abilities. Twenty-six of 32 participants suffered from anxiety (n = 13), obsessive-compulsive disorder (n = 9), and attention-deficit/hyperactivity disorder (n = 8).

Interpretation: This study demonstrates that, unlike in the adult population, myoclonus dystonia syndrome in childhood and adolescence follows a progressive course that can be debilitating in the early stages of life. These findings, along with a high prevalence of psychiatric symptoms, highlight the need for early therapeutic interventions to prevent long-term motor and psychological sequelae.

Aim: To synthesize the experiences of 15- to 34-year-olds with cerebral palsy (CP) as they participate in key life situations of young adulthood.

Method: A mixed-methods scoping review was undertaken and six electronic databases searched (January 2001 to August 2023). Participation foci and thematic outcomes were mapped to the International Classification of Functioning, Disability and Health. Results were integrated using a convergent integrated analysis framework, and data analysis completed through thematic synthesis. Themes were mapped to the family of Participation-Related Constructs.

Results: Thirty-eight publications (32 studies; 2759 participants) were included. More participants were male (n = 1435), walked independently (n = 1319), and lived with their families (n = 1171). 'Claiming my adulthood and "doing" life' was the unifying descriptor of participation, conveying the effortful work young people felt necessary to take their places in the adult world. The physical accessibility of the environment was a significant barrier to participation, as were people's negative attitudes or misconceptions about disability. A close-knit 'circle of support', typically family members, formed a supportive foundation during this period.

Interpretation: Young people with CP aim to participate fully in adult life, alongside their peers. Improved community accessibility, inclusion, and more supportive health environments would ensure they could live the lives they choose.

This study focused on children with bilateral spastic cerebral palsy (CP) who had undergone a selective dorsal rhizotomy (SDR). SDR is a neurosurgical procedure aiming to reduce spasticity in this population. It involves cutting certain sensory nerve fibers in the lower spinal cord that are causing muscle tightness in their legs.

The aim of this study was to identify the short-term effects of SDR, focusing on the changes in the way these children walked before and after SDR (i.e. their gait) and on their clinical impairments, such as spasticity, strength, and selective motor control. These effects were explored in the entire sample, as well as in subgroups according to their gait patterns at baseline.

A total of 89 children (55 males, 34 females) with bilateral spastic CP were analyzed. Before SDR, the patients had a mean age of 9 years 5 months, and most of them were able to walk without assistive devices. They all underwent a three-dimensional gait analysis and a clinical examination at two time points (before and 1 year after SDR). The comprehensive analysis included comparisons of several gait-specific measurements and clinical impairment scores before and after SDR, as well as comparisons of their gait at both time points to the gait of typically developing children.

In the entire sample, the knee and ankle motions improved after SDR, while the pelvic and hip motions deteriorated. The children classified as displaying a jump gait pattern at baseline showed the most improvements after SDR, followed by the children in the apparent equinus (walking on the balls of the feet without heels touching the ground) or crouch (increased knee and hip flexion during the stance phase) gait patterns. Interestingly, spasticity was reduced after SDR in all groups, not at the expense of strength or selectivity.

This study looked at changes in neuromuscular symptoms (spasticity, range of motion, strength, selectivity), muscle growth, and motor function (gait and gross motor function) before and 1 year after selective dorsal rhizotomy (SDR) in children with spastic cerebral palsy (SCP). SDR is a permanent tone-reducing modality that is often applied with these children. During the SDR procedure, 25% to 30% of the dorsal rootlets were cut, descending between L1 and S1 (on the spine). Children received an intensive rehabilitation program during the year after the procedure, with the goal to optimize their quality and quantity of movement.

Fifteen children with bilateral SCP, with a median age of 8 years 8 months, participated in the current study. The study group consisted of 11 boys and 4 girls. Eight children were classified in Gross Motor Function Classification System (GMFCS) level II (children walk in most settings and climb stairs holding onto a railing) and seven were in GMFCS level III (children walk using a hand-held mobility device in most indoor settings). The results showed that SDR effectively reduces spasticity, without negatively affecting muscle growth in children with SCP. Moreover, SDR creates potential beneficial circumstances, namely reduced spasticity and improved selectivity and gait, which may potentially facilitate muscle growth.

Children with cerebral palsy (CP) are born with typical hips; however, the muscle imbalance caused by CP eventually leads to hip displacement in one of every three children. This can negatively affect how a child functions; however, we do not know how hip structure and function change together over time.

The aim of this scoping review was to bring together available evidence on the relationship over time between hip structure (measured by X-ray) and hip function (measured in clinical assessment). To do this, we searched five healthcare databases for published studies involving children with CP, which had measured both hip structure and function at least twice over time.

We identified 29 eligible studies. Four were from large national registry studies, one was a clinical trial, 12 were prospective studies involving measures taken at planned time points, and 12 were retrospective studies whereby relevant information was extracted from healthcare records, after it had been collected in clinical practice.

Most studies (27 of 29, or 93%) reported hip structure and function before and after an intervention, such as surgery (16 studies), rehabilitation (two studies), nerve block or botulinum toxin (four studies), or a combination of interventions. The other two studies gave information about natural history, without intervention. In measuring function, most studies (26 of 29, or 90%) focused on the hip itself (pain, joint movement, spasticity). Fewer studies (17, or 59%) measured everyday activity and mobility, and fewer still (3, or 10%) measured the impact on social participation.

This review discusses assisted reproductive technology (ART), which is a medical procedure that helps people conceive a child. Parents may worry that their use of ART impacts their child's health, and they may express these concerns to their pediatrician or other healthcare provider. The authors explore the difficulties that pediatric clinicians have when counseling parents on such topics.

The present article is meant to help pediatric clinicians understand ART, including the risks associated with the procedure and the complex informed consent process the parents must go through with their fertility doctor (called a reproductive endocrinologist). Informed consent, where a healthcare provider and their patient discuss important information about a procedure or treatment, including possible risks and benefits, is a vital yet challenging part of the ART process.