BackgroundAlkuraya–Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot, and global developmental delay. Most reported cases were cases of premature termination of pregnancies or neonatal deaths. To date, limited studies of nine surviving patients with global developmental delay and intellectual disability have been reported. In this study, we report another surviving patient.MethodsWhole-exome sequencing was utilized for the proband, and variants were filtered, annotated, and classified. Candidate variants were validated by Sanger sequencing of the proband and his family. The literature was reviewed; the prognosis among different regions and the variant type was analyzed.ResultsA non-synonymous variant [NM_015312.3: exon29: c.4892C>G (p.Pro1631Arg)] was identified and validated in the patient's father. A frameshift duplication [NM_015312.3: exon62: c.10872dupA (p.Arg3625Lysfs*5)] that caused early translation termination was identified in his mother. The literature was reviewed, variants were classified into three regions of KIAA1109, and their survival status was summarized.ConclusionWe reported another survival proband with Alkuraya–Kučinskas syndrome driven by KIAA1109. Our case expands the genotypic spectrum of Alkuraya–Kučinskas syndrome and explored the relationship between the variant region and survival.

Objective. To explore the effect of hospital-family rehabilitation intervention on walking function and lower limb surface electromyography in children with cerebral palsy (CP). Methods. About 100 children with CP treated in our hospital from February 2019 to April 2021 were enrolled. The patients were randomly assigned into control group and study group. The control group received routine intervention, and the study group received hospital-family rehabilitation intervention. The intervention effect, GMFM88 scale score, IMMG value, CR value, lower limb surface EMG value, and compliance of gastrocnemius muscle and tibialis anterior muscle were compared. Results. First of all, we compared the intervention effects. In the study group, 43 cases were markedly effective, 5 cases were effective, 1 case was improved, 1 case was ineffective, and the effective rate was 98.00%. In the control group, 22 cases were markedly effective, 14 cases were effective, 7 cases were improved, 7 cases were ineffective, and the effective rate of 86.00%. The intervention effect of the study group was better compared to the control group ( P < 0.05 ). Secondly, we compared the scores of the GMFM88 scale. The scores of D area and E area and total score of the study group were higher compared to the control group ( P < 0.05 ). The IEMG values of gastrocnemius muscle and tibialis anterior muscle were compared, and the IMMG values of passive and active gastrocnemius muscle and tibialis anterior muscle in the study group were higher compared to the control group ( P < 0.05 ). There exhibited no significant difference in CR value before intervention ( P > 0.05 ). After intervention, the CR values of gastrocnemius muscle and tibialis anterior muscle in the study group were significantly lower compared to the control group ( P < 0.05 ). In terms of the surface EMG of lower limbs, the EMG value of passive activity (gastrocnemius muscle, tibialis anterior muscle) in the study group was higher compared to the control group, and the EMG value of active activity was significantly lower compared to the control group ( P < 0.05 ). Finally, we compared the compliance. In the study group, there were 43 cases of complete compliance, 7 cases of compliance, and 0 cases of noncompliance, with a compliance rate of 100.00%. In the control group, there were 32 cases of complete compliance, 11 cases of compliance, and 7 cases of noncompliance with a compliance rate of 86.00%. The compliance rate of the study group was better compared to the control group ( P < 0.05 ). Conclusion. The intervention of hospital-family rehabilitation model is helpful to improve the self-care ability, cognitive function, and daily activities of children with CP, enhance the walking function and lower limb surface electromyography of children with SCP, and strengthen their qualities of life.