Objective To investigate the effectiveness of a novel and complex intervention in community-dwelling people with intellectual disabilities.
Methods Forty-three participants completed the experiment. The subjects were randomly assigned the experimental (n=33) or control (n=10) groups. The multicomponent intervention program comprised exercise and nutrition management and behavior modification. The intervention was performed for 60 minutes once weekly for 10 weeks. The assessment included anthropometric data, body composition and blood pressure analysis, and blood tests. In addition, pulmonary function, physical function, and health-related quality of life were measured before and after the intervention.
Results No adverse events occurred during the intervention. After the intervention, the experimental group showed a significantly higher increase in high-density lipoprotein cholesterol level than did the control group (effect size=0.152, p=0.019).
Conclusion This innovative intervention was effective in improving cardiovascular health. Even greater effects could be achieved through improvements in implementation strategies to increase compliance.
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Objective To evaluate the clinical usefulness of the Korean Developmental Screening Test (K-DST) via comparison with Korean Ages and Stages Questionnaire (K-ASQ) for the diagnosis of developmental delay in pediatric patients.
Methods The K-DST and K-ASQ were used to screen pediatric patients who visited the hospital for evaluation and diagnosis of delayed development. Korean Bayley Scales of Infant Development-II (K-BSID-II) or Korean Wechsler Preschool and Primary Scale of Intelligence III (K-WPPSI-III) were used for the standardized assessment. Moreover, the final clinical diagnosis was confirmed by three expert physicians (rehabilitation doctor, psychiatrist, and neurologist). The sensitivity and specificity of each screening tool for the final diagnosis were investigated and correlated with standardized assessments.
Results A total of 145 pediatric consultations were conducted, which included 123 developmental disorders (40 autism spectrum disorders, 46 global developmental delay/intellectual disability, and 37 developmental language disorders) and another 22 that were not associated with any such disorders. The sensitivity and specificity of K-DST based on the final clinical diagnosis were 82.9% and 90.9%, respectively, which were not significantly different from that of K-ASQ (83.7% and 77.3%). Both K-DST and K-ASQ showed good correlation with K-BSID-II and K-WPPSI-III. No significant difference was found between the K-DST and K-ASQ measures.
Conclusion K-DST is an excellent screening tool and is expected to replace K-ASQ with high validity.
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Methods We conducted a prospective case-control study on children diagnosed with ASD or ID. Eighteen and 11 children were enrolled for THR and control groups, respectively. For 8 weeks, those in the THR group underwent conventional therapy plus 30 minutes of THR per week while controls only received conventional therapy. Participants’ language (using Receptive and Expressive Vocabulary Test [REVT] and Preschool Receptive-Expressive Language Scale [PRES]) and cognitive abilities (using Kaufman Assessment Battery for Children [K-ABC] and the cognitive domain of Bayley Scales of Infant Development-II [BSID-II]) were assessed at baseline and at 8 weeks after treatment.
Results There was no baseline difference between the two groups. In the THR group, there were statistically significant improvements in most domains after THR including receptive and expressive language and cognition compared to those before THR. In the control group, however, only receptive vocabulary ability assessed by REVT and cognitive function assessed by BSID-II showed improvements after conventional therapy. However, there were no statistically significant differences in language or cognitive abilities between the two groups at 8 weeks after treatment.
Conclusion These results suggest that THR might improve language and cognitive abilities. Although the mechanisms and pathways involved in such improvements are currently unclear based on our findings, THR might have potential to optimize language and cognitive abilities of children with ASD and ID.
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Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.
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A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome Rodrigo Mendez, Marisol Delea, Liliana Dain, Monica Rittler Clinical Dysmorphology.2020; 29(1): 42. CrossRef
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De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment D.M. Fernández-Mayoralas, B. Calleja-Pérez, S. Álvarez, A. Fernández-Jaén Neurología (English Edition).2020; 35(8): 601. CrossRef
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Objective To analyze the effects of speech therapy between children with specific language impairment (SLI) and mild intellectual disability (ID). Method Fourteen children with SLI and thirteen children with mild ID who had received speech therapy for more than 1 year were enrolled. The language function and cognitive function of all subjects were assessed before and after speech therapy. Results Improvement of receptive and expressive language development were shown in 78.5% and 71.4% of children with SLI, respectively. However improvement of receptive and expressive language development was shown in only 30.7% of children with ID. Improvement of verbal intelligence which had appeared in the SLI group was not shown in the ID group. Conclusion Effects of speech therapy were different in children with SLI and mild ID and more favorable outcomes were demonstrated in children with SLI.
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