Child ; Developmental Disabilities ; diagnosis ; Humans ; Intellectual Disability ; diagnosis ; Male ; Neuronal Ceroid-Lipofuscinoses ; diagnosis

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

Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay during the early years. The diagnosis can be made by clinical features and neuropsychological tests of intelligence and adaptive functioning. The treatment is limited, but many associated problems are amenable to multidisciplinary interventions. The article will review the recent advances in the management of MR and other neurodevelopmental disorders in children.
Child ; Developmental Disabilities ; Diagnosis ; Humans ; Intellectual Disability* ; Intelligence ; Language Development Disorders ; Neuropsychological Tests

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.
Child* ; Developmental Disabilities ; Diagnosis ; Humans ; Metabolic Diseases ; Metabolism ; Neuroimaging ; Neurologic Examination ; Phenotype ; Risk Factors

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*

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. The infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. The electroencephalogram (EEG) showed background slowing and focal spike discharges in all of 3 patients. Head magnetic resonance imaging (MRI) demonstrated abnormalities in 2 patients, including basal ganglia damage and increased T2-weighted signal in bilateral cerebral peduncles. Urinary organic acid analysis with gas chromatography-mass spectrometry (GC-MS) revealed increased levels of 4-hydroxybutyrate (GHB) in 3 patients. SSADH deficiency was definitely diagnosed based on the clinical manifestations and the results of urinary organic acid analysis in the 3 children. It was concluded that early urine organic acid analysis is essential for children presenting with mental retardation, neuropsychiatric disturbance or epilepsy of unknown etiology.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; therapy ; Developmental Disabilities ; Diagnosis, Differential ; Female ; Humans ; Infant ; Succinate-Semialdehyde Dehydrogenase ; deficiency

This study aimed to evaluate the validity of the ages and stages questionnaire in Korean (ASQ 1st edition, Korean Questionnaires, Seoul Community Rehabilitation Center, 2000) for premature infants. The study population consisted of 90 premature infants born between January 1, 2005, and December 31, 2011, who were tested using the ASQ (Korean) and Bayley Scales of Infant Development (BSID) (II) at a corrected age of 18-24 months. The validity of the ASQ (Korean) using cut-off values set at < -2 SD was examined by comparing it to the BSID (II) components, namely, the mental developmental index (MDI) or psychomotor developmental index (PDI), which were both set at < 85. The calculation of the sensitivities, specificities, positive predictive values, and negative predictive values of the ASQ (Korean) components revealed that they detected infants with neurodevelopmental delay with low sensitivity and positive predictive values, however, the communication domain showed moderate correlations with MDI. The failure in more than one domain of the ASQ (Korean) was significantly correlated with the failure in MDI. The ASQ (Korean) showed low validity for screening neurodevelopmentally delayed premature infants.
*Child Development ; Developmental Disabilities/*diagnosis ; Female ; Gestational Age ; Humans ; Infant ; Infant, Premature ; Male ; Reproducibility of Results ; Surveys and Questionnaires

PURPOSE: To evaluate ocular abnormalities in children with developmental disability and to find out whether any correlation exists between developmental disability and surgical outcome. METHODS: Totally 43 patients with the diagnosis of developmental disability were enrolled in this retrospective study. RESULTS: Mean follow-up was 4.54 +/- 2.35 year. 20 patients had exodeviation, 15 patients had esodeviation, 10 patients had dissociated vertical deviation and 4 patients had dyskinetic strabismus. 21 patients had surgery and the mean deviation angle was decreased from 36.67 +/- 15.70 PD to 5.33 +/- 5.93 PD in exotropia and 56.25 +/- 8.54 PD to 5.75 +/- 4.65 PD in esotropia. Refractive error was found in 33 patients (88.4%). 26 patients (60.5%) had monocular amblyopia and 17 patients (65.38%) showed improvement of visual acuity after treatment. CONCLUSIONS: Exotropia is the most common type strabismus in patients with developmental disability and dyskinetic strabismus is found in cerebral palsy. Strabismus Surgery for patients with stable angle deviation and amblyopia treatment is effective in children with developmental disability. However decision for surgery should be made after a long follow up period.
Amblyopia ; Cerebral Palsy ; Child ; Developmental Disabilities* ; Diagnosis ; Esotropia ; Exotropia ; Follow-Up Studies ; Humans ; Refractive Errors ; Retrospective Studies ; Strabismus ; Visual Acuity

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.
Asperger Syndrome ; Autistic Disorder ; Child ; Autism Spectrum Disorder* ; Developmental Disabilities ; Diagnosis ; Diagnosis, Differential ; Diagnostic and Statistical Manual of Mental Disorders ; Early Diagnosis ; Genetics ; Humans ; Intellectual Disability ; Language Development ; Prognosis ; Rehabilitation

Child ; Child Behavior ; Child Behavior Disorders ; diagnosis ; Child Development ; Developmental Disabilities ; diagnosis ; Humans ; Infant ; Intellectual Disability ; diagnosis ; Pediatrics ; Severity of Illness Index ; Terminology as Topic