[Effect of rehabilitation treatment based on the ICF-CY Core Sets on activities of daily living in children with cerebral palsy: a prospective randomized controlled study].

OBJECTIVE: To study the effect of rehabilitation treatment based on the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) Core Sets on activities of daily living in children with cerebral palsy. METHODS: The children with cerebral palsy were divided into an observation group (n=63) and a control group (n=59) using a random number table. The children in the observation group were evaluated using the brief ICF-CY Core Sets for children under 6 years to identify intervention targets and develop rehabilitation plans and goals, and then specific methods were selected for rehabilitation treatment. The children in the control group were evaluated and treated with the traditional rehabilitation mode. The scores of the Functional Independence Measure for Children (WeeFIM) and the Infants-Junior Middle School Students' Social-Life Abilities Scale were assessed for both groups before treatment and after three courses of treatment. The intervention of environmental factors was compared between the two groups. RESULTS: There was no significant difference in the scores of the WeeFIM and Social-Life Abilities scales between the two groups before treatment (P > 0.05). After treatment, both groups had significant increases in the scores of the WeeFIM and Social-Life Abilities scales (P < 0.001). The observation group had significantly higher scores of WeeFIM and Social-Life Abilities scales than the control group after treatment (P < 0.05). There was no significant difference in the use rate of orthosis between the two groups (P > 0.05), but the use rate of assistive devices for self-help, transfer and communication, the rate of facility renovation, and the rate of family rehabilitation guidance in the observation group were significantly higher than those in the control group (P < 0.05). CONCLUSIONS: The rehabilitation treatment regimen for cerebral palsy based on the CF-CY Core Sets pays more attention to the influence of environmental factors in the process of rehabilitation and can effectively improve the activities of daily living of children with cerebral palsy.

[Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report].

A boy, aged 6 months, had the manifestations of intellectual and motor developmental delay, head instability, general weakness, unawareness of grasping objects by hands, and unusual facies (slightly wide eye distance, epicanthus, esotropia, mouth-opening appearance, short philtrum, and low-set ears). Gene detection results showed a de novo heterozygous frameshift mutation of the CHAMP1 gene at the chromosomal location of chr13:115089847, and nuclear acid was changed to c.530delCinsTTT, resulting in a change in amino acid to p.S177Ffs*2. Therefore, the boy was diagnosed with autosomal dominant intellectual disability-40 caused by the mutation in the CHAMP1 gene. This case report suggests that for children with unexplained intellectual disability, especially those with generalized hypotonia and severe language disorder, the possibility of CHAMP1 gene mutation should be considered, and genetic testing should be performed as early as possible.

[Prospective study of ketogenic diet in treatment of children with global developmental delay].

OBJECTIVE: To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD). METHODS: A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training. The children in both groups were assessed with the Gesell Developmental Scale, Chinese version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Child Behavior Checklist (CBCL), and Infants-Junior High School Students' Social Life Abilities Scale (S-M scale) before treatment and after 3, 6, and 9 months of treatment. The two groups were compared in terms of the improvements in neurobehavioral development, emotional and social behaviors, and social life ability. RESULTS: After 3, 6, and 9 months of treatment, the KD treatment group had significantly greater improvements in the scores of the adaptive, fine motor, and language quotients of the Gesell Developmental Scale compared with the conventional treatment group (P<0.05); the KD treatment group had significantly greater improvements in CITSEA/CBCL scores than the conventional treatment group (P<0.05). The KD treatment group had a greater improvement in the score of the S-M scale after 9 months of treatment (P<0.05). During the KD treatment, 6 children experienced diarrhea and 1 experienced mild urinary stones. CONCLUSIONS: KD can improve the neurobehavioral development and behavioral and emotional behaviors in children with GDD, and it has few adverse effects.

[Effect of botulinum toxin A injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy: a prospective study].

OBJECTIVE: To investigate the long-term clinical efficacy and adverse effects of botulinum toxin-A (BTX-A) injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy. METHODS: Eighty children aged 9-36 months with cerebral palsy and gastrocnemius spasticity were selected and randomly divided into a BTX-A injection group and a conventional treatment group (n=40 each). The children in the BTX-A injection group received injections of BTX-A guided by color Doppler ultrasound and 4 courses of rehabilitation training after injection. Those in the conventional treatment group received 4 courses of the same rehabilitation training alone. Before treatment and at 1, 2, 3, and 6 months after treatment, the modified Tardieu scale (MTS) was applied to assess the degree of gastrocnemius spasticity, the values in the passive state measured by surface electromyography (sEMG) were applied to evaluate muscle tension, and the Gross Motor Function Measure (GMFM) was used to evaluate gross motor function. RESULTS: Compared with the conventional treatment group, the BTX-A injection group had significantly greater reductions in MTS score and the values in the passive state measured by sEMG (P<0.05), as well as significantly greater increases in joint angles R1 and R2 in MTS and gross motor score in GMFM (P<0.05). No serious adverse reactions related to BTX-A injection were found. CONCLUSIONS: BTX-A injection is effective and safe in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.

[Therapeutic effect of ketogenic diet for refractory epilepsy in children: a prospective observational study].

OBJECTIVE: To study the clinical efficiency, electroencephalogram (EEG) changes and cognitive improvements of ketogenic diet (KD) in children with refractory epilepsy. METHODS: Twenty pediatric patients (7-61 months in age) with refractory epilepsy were recruited between August 2012 and August 2013. KD therapy was performed on all participants for at least 3 months based on a fasting initiation protocol with the lipid-to-nonlipid ratio being gradually increased to 4 : 1. Seizure frequency, type and degree were recorded before and during KD therapy. A 24 hours video-electroencephalogram (V-EEG) examination and Gesell Developmental Scale assessment were performed prior to KD therapy, and 3, 6, 9 months after KD therapy. RESULTS: Six patients became seizure free after KD therapy, with a complete control rate of 30%. Seizure frequency reduction occurred in 13 (65%) patients, EEG improvement in 8 (40%) patients, and improvement in Gesell Developmental Scales (gross motor and adaptability in particular) in 6 (30%) patients. The KD therapy-related side effects were mild. CONCLUSIONS: KD therapy is safety and effective in reducing seizure frequency and improving EEG and cognitive function in children with refractory epilepsy.

Psychometric evaluation of the HIV symptom distress scale.

The objective of this article is to psychometrically validate the HIV symptom distress scale (SDS), an instrument that can be used to measure overall HIV symptom distress or clinically relevant groups of HIV symptoms. A secondary data analysis was conducted using the Collaborations in HIV Outcomes Research US Cohort (CHORUS). Inclusion criteria required study participants (N=5521) to have a valid baseline measure of the AIDS Clinical Trial Group Symptom Distress Module, with an SF-12 or SF-36 completed on the same day. Psychometric testing assessed unidimensionality, internal consistency, and factor structure using exploratory and confirmatory factor analysis, and structural equation modeling (SEM). Construct validity examined whether the new measure discriminates across clinical significance (CD4 and HIV viral load). Findings show that the SDS has high reliability (α=0.92), and SEM supports a correlated second-order factor model (physical and mental distress) with acceptable fit (GFI=0.88, AGFI=0.85, NFI=0.99, NNFI=0.99; RMSEA=0.06, [90% CI 0.06 - 0.06]; Satorra Bentler scaled, C (2) =3274.20; p=0.0). Construct validity shows significant differences across categories for HIV-1 viral load (p<0.001) and CD4 (p<0.001). Differences in mean SDS scores exist across gender (p<0.001), race/ethnicity (p<0.05), and educational attainment (p<0.001). Hence, the HIV SDS is a reliable and valid instrument, which measures overall HIV symptoms or clinically relevant groups of symptoms.