A study of the effects of screen exposure on the neuropsychological development in children with autism spectrum disorders based on ScreenQ.

PURPOSE: To investigate the relationship between multi-dimensional aspects of screen exposure and autistic symptoms, as well as neuropsychological development in children with ASD. METHODS: We compared the ScreenQ and Griffiths Development Scales-Chinese Language Edition (GDS-C) of 636 ASD children (40.79 ± 11.45 months) and 43 typically developing (TD) children (42.44 ± 9.61 months). Then, we analyzed the correlations between ScreenQ and Childhood Autism Rating Scale (CARS), and GDS-C. We further used linear regression model to analyze the risk factors associated with high CARS total scores and low development quotients (DQs) in children with ASD. RESULTS: The CARS of children with ASD was positively correlated with the ScreenQ total scores and "access, frequency, co-viewing" items of ScreenQ. The personal social skills DQ was negatively correlated with the "access, frequency, content, co-viewing and total scores" of ScreenQ. The hearing-speech DQ was negatively correlated with the "frequency, content, co-viewing and total scores" of ScreenQ. The eye-hand coordination DQ was negatively correlated with the "frequency and total scores" of ScreenQ. The performance DQ was negatively correlated with the "frequency" item of ScreenQ. CONCLUSION: ScreenQ can be used in the study of screen exposure in children with ASD. The higher the ScreenQ scores, the more severe the autistic symptoms tend to be, and the more delayed the development of children with ASD in the domains of personal-social, hearing-speech and eye-hand coordination. In addition, "frequency" has the greatest impact on the domains of personal social skills, hearing-speech, eye-hand coordination and performance of children with ASD.

Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.

Children with Down syndrome (DS) show delayed acquisition of cognitive and functional skills compared to typically developing children. The objective of this study was to accurately describe early development of infants and young children (children hereafter) with DS based on a large recent sample. We carried out repeated measure analysis of the global development quotient (GDQ) and developmental age using data from the Assessment of Systematic Treatment with Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children (ACTHYF) study (NCT01576705). Because there was no statistically significant difference in the primary endpoint between active treatment and placebo, data from all treatment groups were pooled for post-hoc analysis. Data of 141 children with DS aged 6-18 months at inclusion were analyzed. Mean GDQ decreased over the study period, especially in the youngest age classes ([6-9] and [9-12] months), indicating that acquisition of skills occurred at a slower pace compared to typically developing children. Strongest deficits were observed for motor and hearing and language skills. Only GDQ at baseline correlated significantly with evolution of GDQ. Future studies should aim at elucidating the mechanisms underlying motor and language development. Early pharmacological interventions together with early childhood therapies might be necessary to improve the developmental trajectory of children with DS.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

INTRODUCTION: Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and chronic kidney disease (CKD). A kidney transplant may partially correct the metabolic dysfunctions. Liver, kidney and combined liver-kidney transplantations have been advocated but no guidelines are available to identify the most suitable organ to transplant. PATIENTS AND METHODS: Four patients with MMA (mut° phenotype) received a kidney graft because of repeated metabolic decompensations, with progression to CKD in 3 patients (end-stage kidney disease in two patients and CKD stage III in one patient with an estimated glomerular filtration rate [eGFR] of 40ml/min/1.73m(2)) but normal renal function in one (eGFR of 93ml/min/1.73m(2)) before transplantation. RESULTS: The medium age at transplantation was 7.9y (5-10.2) and the median follow-up was 2.8years (1.8-4.6). Renal transplantation improved the relevant metabolic parameters in 4/4 patients and renal function in the patients with CKD. Plasma and urinary MMA levels immediately decreased and remained normal or subnormal (mean values of plasma MMA before transplantation 1530µmol/L versus 240µmol/L after transplantation, and mean values of urine MMA before transplantation 4700mmol/mol creatinine versus 2300mmol/mol creatinine after transplantation). No further acute metabolic decompensation was observed and protein-intake was increased from 0.60 to 0.83g/Kg/day. One patient transplanted at age 9.7years developed a hepatoblastoma at age 11years with subsequent neurological complications and eventually died. The three other patients are alive. Two of them remained neurologically stable. The 3rd patient who displayed choreoathetosis transiently improved his neurological condition immediately after transplantation and then remained stable. CONCLUSION: Kidney transplantation represents an interesting alternative therapeutic option in methylmalonic aciduria, for renal complications but also as a "cellular therapy" that may significantly reduce metabolic decompensations and hospitalizations. However, further neurological impairment remains possible.

Correlation Between Screen Time and Autistic Symptoms as Well as Development Quotients in Children With Autism Spectrum Disorder.

Background: Electronic screen media play an increasingly vital role in children's entertainment; however, excessive screen time may negatively influence child development. The purpose of this study was to investigate the relationship between the screen time of children with autism spectrum disorder (ASD) and their autistic symptoms and development quotients (DQs). Methods: We compared the screen time of 101 children with ASD and 57 typically developing (TD) children. Then, we performed a correlation analysis to determine the correlations between the screen time and the ASD-related scale scores and developmental quotients of the Gesell Developmental Schedules (GDS) of ASD children. We further divided the ASD group into subgroups according to the screen time and age and then separately conducted the above correlation analyses by subgroup. Result: The results showed that the screen time of the children with ASD was longer than that of the TD children (3.34 ± 2.64 h vs. 0.91 ± 0.93 h). The screen time of the children with ASD was positively correlated with the Childhood Autism Rating Scale (CARS) score (r = 0.242, P = 0.021) and "taste, smell and touch" item of CARS(r = 0.304, P = 0.005), and negatively correlated with the language DQ of the GDS (r = -0.236, P = 0.047). The subgroup analysis showed that in the longer screen time subgroup of ASD children, the screen time was positively correlated with the CARS score (r = 0.355, P = 0.026) and negatively correlated with the DQs of all domains of the GDS (P < 0.05). In addition, in the younger age group of ASD children, the screen time was positively correlated with the CARS score (r = 0.314, P = 0.021) and negatively correlated with the DQs of all domains of the GDS, except for the personal-social behavior domain (P < 0.05). Conclusion: Compared with TD children, children with ASD have a longer screen time. The screen time is related to autism-like symptoms and the DQs of children with ASD. The longer the screen time, the more severe the symptoms of ASD (especially sensory symptoms), and the more obvious the developmental delay, especially in ASD children with a longer screen time and younger age, particularly in the language domain.

[Acupuncture combined with Heixiaoyao powder for children with cerebral palsy and its effect on serum immune indexes and nerve growth related protein].

OBJECTIVE: To observe the efficacy of acupuncture combined with Heixiaoyao powder for children with cerebral palsy (liver-qi stagnation, spleen-kidney deficiency syndrome) and its effect on serum immune indexes and nerve growth related protein. METHODS: A total of 180 children with cerebral palsy were randomly divided into a combined group (60 cases, 2 cases dropped off), an acupuncture group (60 cases, 4 cases dropped off) and a Chinese medication group (60 cases, 5 cases dropped off). On the basis of conventional treatment, the children in the combined group were treated with acupuncture [Baihui (GV 20), Sishencong (EX-HN 1), Shenting (GV 24), Benshen (GB 13), 30 min each time, twice a day] and Heixiaoyao powder; the children in the acupuncture group were treated with acupuncture, and the children in the Chinese medication group were treated with Heixiaoyao powder, the treatment was same with the combined group. All the children were treated for 6 consecutive days and rest for 1 day, totaling for 8 weeks. The Gesell developmental schedules (GDS) and TCM symptom scores were recorded before treatment, after treatment and at 3-month, 6-month and 12-month follow-up visit; the serum immune indexes (IgA, IgG and IgM) and nerve growth related protein [myelin basic protein (MBP), high mobility group box-1 (HMGB1), neuronspecific enolase (NSE)] were detected before and after treatment. The clinical efficacy of each group was evaluated. RESULTS: The total effective rate was 91.4% (53/58) in the combined group, which was higher than 80.4% (45/56) in the acupuncture group and 78.2% (43/55) in the Chinese medication group (P<0.05). Compared before treatment, the GDS scores in the three groups were increased and the TCM symptom scores were reduced after treatment and at 3-month, 6-month and 12-month follow-up visit (P<0.05). The GDS score in the combined group was higher than that in the acupuncture group and the Chinese medication group, and the TCM symptom score was lower than that in the acupuncture group and Chinese medication group (P<0.05). After treatment, the serum levels of IgA, IgG and IgM in the combined group were increased (P<0.05), and the serum levels of MBP, HMGBl and NSE were decreased (P<0.05), and the improvements were superior to those in the acupuncture group and the Chinese medication group (P<0.05). CONCLUSION: Acupuncture combined with Heixiaoyao powder could effectively improve the development quotient in children with cerebral palsy (liver-qi stagnation, spleen-kidney deficiency syndrome), regulate the serum immune indexes and nerve growth related protein levels.

Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three-dimensional computerized tomography.

There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome. From January 2002 to December 2011, 13 patients with Apert syndrome were operated on and were followed up for more than 5 years. Nine patients underwent operations before 1 year of age (early surgery group) and three patients underwent operations later in life (late surgery group). They underwent fronto-orbital advancement for primary surgery. We evaluated postoperative developmental quotient every year and cephalic index (CI) measured by three-dimensional computerized tomography (3D-CT) at the age over 5 years retrospectively. Eleven of 13 patients improved their developmental quotient scores, with no significant intergroup differences. The CI evaluation showed cases with remnant brachycephalic deformity in both groups. Two patients with remnant plagiocephalic deformities tend to have primary surgery early in life compared to the others. Thus the delay in primary surgery had little influence on psychological development. We conclude that the primary surgery can be delayed unless the intracranial pressure needs to be controlled. In addition, fronto-orbital advancement could not sufficiently improve the brachycephalic appearance, other procedures like posterior vault distraction might be better alternatives.

Long-term outcomes of epilepsy surgery in 85 pediatric patients followed up for over 10 years: a retrospective survey.

OBJECTIVE The aim of this study was to investigate the treatment outcomes and social engagement of patients who had undergone pediatric epilepsy surgery more than 10 years earlier. METHODS Between 1983 and 2005, 110 patients younger than 16 years underwent epilepsy surgery at the National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders. The authors sent a questionnaire to 103 patients who had undergone follow-up for more than 10 years after surgery; 85 patients (82.5%) responded. The survey contained 4 categories: seizure outcome, use of antiepileptic drugs, social participation, and general satisfaction with the surgical treatment (resection of the epileptic focus, including 4 hemispherectomies). The mean patient age at the time of surgery was 9.8 ± 4.2 (SD) years, and the mean duration of postoperative follow-up was 15.4 ± 5.0 years. Of the 85 patients, 79 (92.9%) presented with a lesional pathology, such as medial temporal sclerosis, developmental/neoplastic lesions, focal cortical dysplasia, and gliosis in a single lobe. RESULTS For 65 of the 85 responders (76.5%), the outcome was recorded as Engel Class I (including 15 [93.8%] of 16 patients with medial temporal sclerosis, 20 [80.0%] of 25 with developmental/neoplastic lesions, and 27 [73.0%] of 37 with focal cortical dysplasia). Of these, 29 (44.6%) were not taking antiepileptic drugs at the time of our survey, 29 (44.6%) held full-time jobs, and 33 of 59 patients (55.9%) eligible to drive had a driver's license. Among 73 patients who reported their degree of satisfaction, 58 (79.5%) were very satisfied with the treatment outcome. CONCLUSIONS The seizure outcome in patients who underwent resective surgery in childhood and underwent followup for more than 10 years was good. Of 85 respondents, 65 (76.5%) were classified in Engel Class I. The degree of social engagement was relatively high, and the satisfaction level with the treatment outcome was also high. From the perspective of seizure control and social adaptation, resective surgery yielded longitudinal benefits in children with intractable epilepsy, especially those with a lesional pathology in a single lobe.

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable syndrome associated with duplication of a critical Rubinstein-Taybi region encompassing only the CREBBP gene. Nevertheless, variable or incompletely penetrant phenotype has been reported previously. We here report a case of a 5-year old boy with a recognizable phenotype of this syndrome, including intellectual disability, mild arthrogryposis, small and proximally implanted thumbs and characteristic facial features. In addition, growth delay, microcephaly and distinguishable structural brain MRI abnormalities were observed. A de novo 1.5 Mb interstitial duplication of 16p13.3 was detected by SNP-array and fluorescence in situ hybridization (FISH). Short tandem repeat polymorphism (STRP) analysis with marker D16S475 indicated that the duplication was formed before maternal meiosis II. Our findings highlight the variable clinical features and further expand the phenotypic spectrum correlated with this lately proposed syndrome.