OBJECTIVETo examine the association between autism spectrum disorder (ASD) and epilepsy in children.

METHODSA total of 190 children with ASD were enrolled. A self-designed questionnaire, Childhood Autism Rating Scale, and Autism Behavior Checklist were used to determine the association between ASD and epilepsy.

RESULTSAmong the 190 children with ASD, 20 (10.5%) had epileptic seizures and 12 (6.3%) were diagnosed with epilepsy. The rates of abnormal physical development and hearing disorders before the age of one year were significantly higher in ASD children with epileptic seizures than in those without epileptic seizures (P<0.05). The ASD children diagnosed with epilepsy and those receiving epilepsy treatment had a significantly increased rate of abnormal physical development before the age of one year (P<0.05). The ASD children with epileptic seizures had poorer sensory responses and behavioral competencies than those without epileptic seizures (P<0.05). Epilepsy treatment have a positive effect on behavioral competencies in ASD children (P<0.05).

CONCLUSIONSThere is a significant association between ASD and epilepsy in children. The possibility of the comorbidity between ASD and epilepsy may be assessed according to the status of growth and development before the age of one year, sensory responses and behavioral competencies, and the presence or absence of epileptic seizures.

Adolescent ; Autism Spectrum Disorder ; complications ; Child ; Child, Preschool ; Developmental Disabilities ; etiology ; Epilepsy ; complications ; Female ; Hearing Disorders ; etiology ; Humans ; Male

OBJECTIVE: To explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS: Two children with MICPCH who were presented at the Henan Provincial People's Hospital between April 2019 and December 2021 were selected as the study subjects. Clinical data of the two children were collected, along with peripheral venous blood samples of them and their parents, and amniotic fluid sample of the mother of child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH) and real-time quantitative PCR (qPCR) were carried out for the children, their parents and the fetus. The pathogenicity of candidate variants were evaluated. RESULTS: Child 1 was a 6-year-old girl featuring motor and language delay, whilst child 2 was a 4.5-year-old girl mainly featuring microcephaly and mental retardation. WES revealed that child 2 has harbored a 158.7 kb duplication in Xp11.4 (chrX: 41446160_41604854), which has encompassed exons 4~14 of the CASK gene. The same duplication was not found in either of her parents. aCGH revealed that child 1 has harbored a 29 kb deletion at Xp11.4 (chrX: 41637892_41666665), which encompassed exon 3 of the CASK gene. The same deletion was not found in either of her parents and the fetus. The above results were confirmed by qPCR assay. Above deletion and duplication were not found in the ExAC, 1000 Genomes and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PS2+PM2_Supporting). CONCLUSION The deletion of exon 3 and duplication of exons 4~14 of the CASK gene probably underlay the pathogenesis of MICPCH in these two children, respectively.
Humans ; Child ; Female ; Child, Preschool ; Microcephaly/genetics* ; Developmental Disabilities/genetics* ; Intellectual Disability/complications* ; Comparative Genomic Hybridization ; Mutation

Cerebral Palsy ; classification ; complications ; epidemiology ; Child ; Child, Preschool ; China ; epidemiology ; Developmental Disabilities ; complications ; Female ; Humans ; Infant ; Language Disorders ; complications ; Male ; Seizures ; complications ; Sex Factors ; Vision Disorders ; complications

PURPOSE: It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with non-Western language scales. MATERIALS AND METHODS: The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013. The number of toddlers diagnosed as ASD and developmental language delay (DLD) was 103 and 63, respectively. Language development level was assessed using Sequenced Language Scale for Infants (SELSI), a Korean language scale. Using SELSI, each group was divided into 3 sub-groups. Moreover, the group difference by age was observed by dividing them into three age groups. Chi-square test and linear-by-linear association was used for analysis. RESULTS: Receptive language ability of the DLD group was superior to that of the ASD group in all age groups. However, expressive language ability in both groups showed no difference in all age groups. A greater proportion of expressive dominant type was found in ASD. The 20-29 months group in ASD showed the largest proportion of expressive language dominant type in the three age groups, suggesting that the younger the ASD toddler is, the more severe the receptive language impairment is. CONCLUSION: These findings suggest that receptive-expressive language characteristics in ASD at earlier age could be useful in the early detection of ASD.
Child Development Disorders, Pervasive/*complications ; Child, Preschool ; Developmental Disabilities/*complications ; Early Diagnosis ; Female ; Humans ; Infant ; *Language ; *Language Development ; Language Development Disorders/complications/*diagnosis ; Language Tests ; Male ; Republic of Korea

OBJECTIVETo analyze clinical characteristics of children with 45, X/46, XY mosaicism and explore effective managements for them.

METHODFive children with 45, X/46, XY mosaicism were all in puberty period, of whom, three were female and two male. The standing height, weight and sexual development were measured. The levels of sex hormones, other endocrine parameters were also determined, and imaging examinations were performed.

RESULTAll the patients had disorders of sex development, of whom, 4 had short stature, and the HtSDs was -2.8 ± 1.1. The results of laboratory indexes suggested that 4 had hypergonadotropic hypogonadism, with the average level of LH (13.5 ± 5.8) IU/L and FSH (56.8 ± 37.4) IU/L. Imaging examinations revealed that 2 cases had cryptorchidism, 1 had immature uterus, 1 had testicular dysgenesis and 1 had normal testis. Three patients received rhGH treatment and 1 took gender assignment into account.

CONCLUSIONPatients with mosaic 45, X/46, XY karyotypes had a wide range of phenotypic manifestations, and disorders of sex development and short stature were the main clinical features. However, the disorders of sex development varied among these patients. And the management for them depends upon many factors and needs to be individualized based on the cooperation with different clinical departments.

Adolescent ; Child ; Chimerism ; Developmental Disabilities ; complications ; Female ; Gonadal Dysgenesis, 46,XY ; complications ; Humans ; Male ; Sex Chromosome Aberrations ; Sexual Development ; Turner Syndrome ; complications

The medical records of six cases of nesidioblastosis were examined to determine the diagnostic approach, treatment, and neurologic sequelae. All six patients were male, and their ages at the onset of the disease ranged from one day to six months (mean 3.36 +/- 2.5 mo.). Initial clinical features were seizure, cyanosis, poor feeding, and apnea. Other subsequent symptoms were developmental delay, hyperactivity, and cold sweating. The Birth weight of the neonatal onset group was heavier than the postneonatal onset group (4.4 +/- 0.3 vs 3.26 +/- 0.04 kg). Before the diagnosis of hyperinsulinism, steroids of ACTH proved effective for seizure control. Initially, hyperinsulinemia (serum insulin greater than 10 microU/ml) was detected in four cases, but another two cases also showed hyperinsulinism by insulin/glucose(I/G) ratio greater than 0.3 during the fasting test. The glucagon response performed in 2 cases, showed normal and partial responses. Euglycemia was obtained by near total pancreatectomy (95% pancreatic resection)without malabsorption or persistent diabetes. In one case, nesidioblastoma coexisted with nesidioblastosis. Developmental delay was noted in three cases. In this group, the mean duration between symptom onset and operation was longer than the group without developmental delay (1.25 +/- 0.47 vs 0.38 +/- 0.19 yr).
Brain Damage, Chronic/*etiology ; Child, Preschool ; Developmental Disabilities/etiology ; Humans ; Hypoglycemia/blood/*etiology ; Infant ; Infant, Newborn ; Insulin/*blood ; Male ; Pancreatic Diseases/complications/*diagnosis/therapy ; Postoperative Complications/epidemiology

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene. The boy had a significant increase in 3-O-methyldopa as measured by dried blood spot. Therefore, he was diagnosed with AADC deficiency. After treatment with the dopamine receptor agonist pramipexole dihydrochloride, the catechol-O-methyltransferase inhibitor entacapone, and vitamin B6, the boy showed mild improvements in hypotonia, blepharoptosis, and oculogyric crisis. Clinical physicians should enhance their ability for identifying AADC deficiency, so as to facilitate early diagnosis and treatment of this disorder. Genetic counseling for birth health and prenatal diagnosis should be performed for parents in need.
Amino Acid Metabolism, Inborn Errors ; complications ; Aromatic-L-Amino-Acid Decarboxylases ; deficiency ; Developmental Disabilities ; etiology ; Feeding and Eating Disorders ; etiology ; Humans ; Infant ; Male ; Nystagmus, Pathologic ; etiology

A one-year-old girl visited the hospital due to limb torsion and developmental regression for one month after hand, foot and mouth disease. At the age of 11 months, she visited a local hospital due to fever for 5 days and skin rash with frequent convulsions for 2 days and was diagnosed with severe hand, foot and mouth disease, viral encephalitis, and status epilepticus. Brain MRI revealed symmetric abnormal signals in the bilateral basal ganglia, bilateral thalamus, cerebral peduncle, bilateral cortex, and hippocampus. She was given immunoglobulin, antiviral drugs, and anticonvulsant drugs for 2 weeks, and the effect was poor. Blood and urine screening for inherited metabolic diseases were performed to clarify the etiology. The analysis of urine organic acids showed significant increases in glutaric acid and 3-hydroxyglutaric acid, which suggested glutaric aciduria type 1, but her blood glutarylcarnitine was normal, and free carnitine significantly decreased. After the treatment with low-lysine diets, L-carnitine, and baclofen for 1 month, the patient showed a significant improvement in symptoms. Hand, foot and mouth disease is a common viral infectious disease in children, and children with underlying diseases such as inherited metabolic diseases and immunodeficiency may experience serious complications. For children with hand, foot and mouth disease and unexplained encephalopathy, inherited metabolic diseases should be considered.
Amino Acid Metabolism, Inborn Errors ; etiology ; Brain Diseases, Metabolic ; etiology ; Developmental Disabilities ; etiology ; Female ; Glutaryl-CoA Dehydrogenase ; deficiency ; Hand, Foot and Mouth Disease ; complications ; Humans ; Infant ; Torsion Abnormality ; etiology

This paper summarises the current evidence on neuro-developmental deficits in the early (< 1 month of age) treated congenital hypothyroid and the influencing factors. A literature search revealed only few citations that compared outcome with matched controls. In all but one, the median age of treatment onset was >2 weeks. Mean Global IQ scores are about 10 points lower and remain identifiable in adulthood. Verbal and performance scores are usually similar. Deficits persisting into adolescence and adulthood involve the visuomotor, memory, attention and posture domains. Lower academic performance is common in the early years. Prenatal factors associated with a worse prognosis are aetiology (dysgenesis), low birth weight, associated complications and severity of hypothyroidism. Postnatal factors are age at onset of treatment (>1 month), lower thyroxine dose at onset (<8 mcg/kg/day), late normalisation of thyroid function (>2 weeks after treatment), and a lower socio economic family status. The author proposes the evaluation of a multi centre cohort with a median age of treatment onset <1 week, TSH normalisation by <3 weeks with treatment thyroxine levels maintained in the 3rd quartile for age. The outcome of this cohort should indicate if current targets in management need to be revised.
Adolescent ; Adult ; Child ; Child, Preschool ; Congenital Hypothyroidism ; complications ; drug therapy ; Developmental Disabilities ; etiology ; Humans ; Infant, Newborn ; Nervous System Diseases ; etiology ; Thyroxine ; administration & dosage

The permanent impairment evaluation for children in developmental stage is very difficult and it is even impossible in some cases. The impairment evaluation for developing children has not yet been included in the guideline of the American Medical Association. Due to frequent medical and social demands in Korea, we developed an impairment evaluation guideline for motor impairment, intellectual disability/mental retardation, developmental speech-language disorder and epilepsy caused by pediatric cerebral injuries, or cerebral lesions other than the developmental disorders such as autism. With the help of various literature and foreign institutions, we developed our in order to develop a scientific guideline for pediatric impairment that is suited to Korean cultural background and social condition.
Brain/physiopathology ; Brain Diseases/*complications ; Brain Injuries/complications ; Child ; Developmental Disabilities/classification/*diagnosis/etiology ; *Disability Evaluation ; *Disabled Children ; Humans ; Korea ; Language Development Disorders/classification/diagnosis/etiology ; Mental Disorders/classification/diagnosis/etiology ; Program Development ; Seizures/classification/diagnosis/etiology ; Severity of Illness Index