Developmental Disabilities ; diagnosis ; etiology ; genetics ; Humans ; Nervous System Malformations ; diagnosis ; etiology ; genetics

A girl, aged 22 months, attended the hospital due to recurrent vulvar rashes for more than half a year. Skin biopsy showed Langerhans cell histiocytosis, and evaluation of systemic conditions showed no systemic involvement. Therefore, the girl was diagnosed with Langerhans cell histiocytosis (skin type). In conclusion, for rashes on the vulva alone, if there are no specific clinical manifestations, the possibility of Langerhans cell histiocytosis should be considered after molluscum contagiosum, sexually transmitted diseases, and Fordyce disease are excluded.
Developmental Disabilities ; Exanthema/etiology* ; Female ; Histiocytosis, Langerhans-Cell ; Humans ; Infant ; Vulvar Diseases/diagnosis*

OBJECTIVETo investigate the influence of family environment on developmental coordination disorder (DCD) in preschool children.

METHODSStratified random cluster sampling was used to select 1 727 children (4-6 years old). The Movement Assessment Battery for Children was used to screen out the children with DCD. The Family Environment Scale on Motor Development for Preschool Urban Children and a self-designed questionnaire were used to assess family environment.

RESULTSA total of 117 children were confirmed with DCD. There were significant differences in mother's education level and family structure between the DCD and normal control groups. There were also significant differences in the scores of "Let children manage their daily items" and "Arrange all affairs" between the DCD and normal control groups. The multivariate logistic regression analysis indicated that when children's age and gender were controlled, mother's education level, family structure, "Let children manage their daily items", and "Arrange all affairs" were main factors influencing the development of DCD in children (P<0.05).

CONCLUSIONSFamily environment may affect the development of DCD in preschool children. Therefore, parents should not arrange all affairs for children and should provide more opportunities for children to manage their daily life, in order to promote the development of early motor coordination and prevent the development of DCD.

Child ; Child, Preschool ; Developmental Disabilities ; etiology ; Environment ; Family ; Female ; Humans ; Logistic Models ; Male

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

OBJECTIVETo study the relationship between the growth rate of the corpus callosum and neurological motor development in premature infants.

METHODSFifty infants whose gestational ages were less than 34 weeks and who were admitted to the neonatal intensive care unit from March 2007 to August 2007 were enrolled. From 0 to 6 weeks of postnatal age, the sagittal midline cranial sonography via anterior fontanel was performed, once weekly. The length and the morphology of the corpus callosum were measured. The 52-neuromotor examinations were performed at 3 months of corrected gestational age.

RESULTSThe mean length of the corpus callosum was 39.16 mm at birth. The mean growth rate of the corpus callosum during the first 6 weeks of life was 1.05 mm/week. Fourteen infants showed abnormal neuromotor development and 36 had normal-neuromotor function at 3 months of corrected gestational age. A decreased growth rate of the corpus callosum was observed in the abnormal nervimotion group between 2 and 3 weeks (0.68 mm/week vs 1.17 mm/week) and between 4 and 5 weeks (0.86 mm/week vs 1.12 mm/week) after birth compared with that in normal nervimotion group (p<0.05). The total growth rate of the corpus callosum from 2 to 6 weeks after birth in the abnormal nervimotion group was also lower than that in the normal nervimotion group (0.91 mm/week vs 1.15 mm/week; p<0.01).

CONCLUSIONSA neuromotor delay at 3 months of corrected gestational age may be associated with the decreased growth rate of the corpus callosum between 2 and 6 weeks of life in premature infants.

Corpus Callosum ; diagnostic imaging ; growth & development ; Developmental Disabilities ; etiology ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Motor Activity ; Ultrasonography

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

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

Prematurity, intrauterine infection and perinatal brain injury have been reported to be significant risk factors of cerebral palsy (CP). We examined the perinatal predictors of cerebral palsy and delayed development (DD) in 184 high risk infants. Thirty-five infants were diagnosed as cerebral palsy and delayed development at 12 months corrected age. Antenatal, intrapartum, and neonatal factors were prospectively evaluated in 2 groups of high risk infants compared with controls; Group A (n = 79), infants weighing less than 2,000 g; Group B (n = 43), infants weighing 2,000 g or more. In univariate analysis, there were no significant antenatal and intrapartum factors associated with cerebral palsy and delayed development in either group. We found that significant postnatal risk factors of CP in group A included sepsis (p = 0.008), BPD (bronchopulmonary dysplasia) (p = 0.028), IVH (intraventricular hemorrhage) (p = 0.042), ventriculomegaly (VM) (p = 0.001) and a longer duration of mechanical ventilation (p = 0.001); while in group B, sepsis (p = 0.047) and neonatal seizure (p = 0.027) were significant risk factors. In multivariate analysis, sepsis in group B was a moderate risk factor of CP (OR (odds ratio) 1.47; 95% CI (confidence interval) 1.02-2.13). In conclusion, neonatal sepsis may contribute to the development of cerebral palsy and delayed development. We suggest that high risk infants who have sepsis should be carefully followed for cerebral palsy and delayed development. The prevention of cerebral palsy may be feasible by decreasing neonatal risk factors such as sepsis during the neonatal period.
Cerebral Palsy/etiology* ; Child Development* ; Developmental Disabilities/etiology* ; Female ; Human ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases* ; Male ; Prospective Studies ; Risk Factors

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