The purpose of this study was to investigate the clinical characteristics of children with mental retardation (MR) of unknown etiology for early recognition and intervention. In this study, we defined children with MR of unknown etiology as those without clear etiologies for MR despite extensive evaluation and were not associated with pathological behavioral problems such as pervasive developmental disorders and attention-deficit/hyperactivity disorder. The clinical characteristics of children with MR of unknown etiology were as follows. 1) MR of unknown etiology was 48.8% of all MR. 2) MR of unknown etiology was more common in males. 3) Delayed language development was a leading factor that made the parents of children with MR of unknown etiology seek help from physicians. However, most of the children with MR of unknown etiology showed a relatively uniform delay in several areas of development. 4) Most children with MR of unknown etiology were delayed walkers. 5) Most children with MR of unknown etiology were mild cases.
Child ; Child, Preschool ; Female ; Human ; Korea ; Language Development Disorders ; Male ; Mental Retardation/psychology ; Mental Retardation/physiopathology* ; Mental Retardation/etiology ; Retrospective Studies

OBJECTIVE: Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs. METHODS: Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs. RESULTS: We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76x10(-6)) and rs7125479 (p-value=1.48x10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test. CONCLUSION: Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.
Autistic Disorder ; Child ; Autism Spectrum Disorder ; Chromosomes, Human, Pair 11 ; Endophenotypes ; Genome-Wide Association Study ; Humans ; Language Development Disorders ; Multifactor Dimensionality Reduction ; Parents ; Polymorphism, Single Nucleotide

OBJECTIVE: To assess the clinical effeetiveness of prelingually deaf children after cochlear implantation at different ages so as to provide reasonable expectations for the patients and guidance for the clinical treatment. METHOD: Electronic databases PubMed, YZ365. COM, WANFANG DATA, CMJD, CHKD, CNKI were searched using relevant keywords. Extracted data included author, year of publication, diagnosis, et al. Reported treatment outcomes were clustered into speech discrimination and hearing abilities. Meta-analyses were performed on studies with numerical results using random or fixed effects model. RESULT: There were eight randomized control studies including 442 patients. Comparing speech perception of prelingually deaf children after cochlear implantation younger than three years old (experimental group) and 3-6 years old (control group), three and six months after operation showed that experimental group performed significantly worse than control group; 12 months after operation showed that experimental group performed significantly better than control group. Comparing hearing abilities, three and six months after operation showed that experimental group performed significantly worse than control group; 12 months after operation showed showed that experimental group performed significantly better than control group. Comparing speech perception of younger or older than 4. 5 years old children showed that after 1.5-2 years of operation children implanted younger than 4.5 years of age performed significantly better than children implanted older than 4.5 years old. Comparing speech perception of 7-12 years old children showed that after 3, 6, 12 months of operation patients of 7-12 years old performed significantly better than those children older than 12 years old. Comparing speech perception of implantation younger or older than 18 years old (7-14 yeas old was group A, > 14-18 yeas old was group B, older than 18 yeas old was group C) showed that after one and four years of operation A > B > C, and there were significant differences among them. Comparing warble tone threshold average (WTA) showed that after one year of operation A < B < C, and there were significant differences among them. However, after four years of operation, there was no significant difference among them. CONCLUSION Prelinguistically deafened patients younger than three years old with cochlear implantation, insisting on scienctific rehabilitation training for a long period of time can receive the optimal recovery effect. The older patients are suggested as early as possible receiving cochlear implantation. The longer they are implanted, the better results they will receive. Moreover, the younger age they are implanted, the faster postoperative language progress they will receive. Further controlled studies with longer follow-up periods and more person included may make the effectiveness of cochlear implantaion more reliable.
Adolescent ; Child ; Cochlea ; Cochlear Implantation ; Deafness ; Hearing Tests ; Humans ; Language ; Language Development ; Speech Perception ; Treatment Outcome

OBJECTIVEThe goals, prospects and methods of the Prospective Twin Registry in Southwestern China (TRiSC) are described. The aim of this study is to measure children's behavioral development and psychopathology from phenotypic, genetic and environmental perspectives.

METHODSThe children's self-report, as well as parental and teachers' informant report were used to measure the children's behavior and psychopathology, and the latter was related to the children's general cognitive abilities, and to the parenting style. Other variables of interest such as children's temperament and parental health status were also used.

RESULTSNine thousand and three hundred thirty nine pairs of 0-16 years old twins have been registered, 324 pairs of them were monozygotic based on DNA samples as well as the detailed information on behavioral and cognitive aspects.Analysis has been performed for the influences of genetic and environmental factors on children's behavior and cognition.

CONCLUSIONSchool-based twins recruitment is a helpful method in child and adolescent twin study. TRiSC has been a valuable resource for research on the development of children's behavior and cognition.

Adolescent ; Adolescent Development ; Asian Continental Ancestry Group ; genetics ; Behavior ; Child ; Child Development ; Child, Preschool ; China ; Cognition ; Environment ; Female ; Follow-Up Studies ; Genetics, Behavioral ; Human Development ; physiology ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Health ; Prospective Studies ; Registries

PURPOSE: Recurrent otitis media (ROM) is usually defined as > or =3 distinct and well-documented episodes within 6 months or > or =4 episodes within 12 months. ROM is sufficiently important to warrant consideration of chemoprophylaxis, tympanostomy tube placement. There also is evidence that children with ROM are at risk for both hearing loss and speech delay. However, studies of ROM have been notably insufficient. In addition, even though environmental, racial, and sociocultural differences can affect risk factors, few studies have been conducted with regard to recurrent otitis media in Korea. METHODS: This study was conducted from July 2009 to January 2010 with infants and children who were younger than 60 months old, who visited the out-patient clinics at Han-Il General Hospital and Kyunghee University Hospital. Data were collected by interview using a pre-formed sheet. Among a total of 892 infants and children, 457 were excluded, and the remaining 435 were allocated to 104 with ROM and 331 as a control group. RESULTS: Attendance at daycare centers (P<0.001, OR=2.85), allergic rhinitis (P=0.026, OR=2.32), past history of bronchiolitis (P=0.003, OR=2.33), and low socioeconomic status (P=0.005, OR=2.00) were found to have a close significant correlation with ROM. Risk factors such as sex, having a sibling, breast-feeding, use of pacifiers, atopy, pneumococcal vaccination, influenza vaccination, smoking of parents, and indoor smoking are not relevant. CONCLUSION: Attendance at daycare centers, allergic rhinitis, past history of bronchiolitis, and low socioeconomic status have been identified as risk factors for ROM.
Bronchiolitis ; Chemoprevention ; Child ; Hearing Loss ; Hospitals, General ; Humans ; Infant ; Influenza, Human ; Language Development Disorders ; Middle Ear Ventilation ; Otitis ; Otitis Media ; Outpatients ; Pacifiers ; Parents ; Rhinitis ; Rhinitis, Allergic, Perennial ; Risk Factors ; Siblings ; Smoke ; Smoking ; Social Class ; Vaccination

OBJECTIVE: To explore the clinical and genetic characteristics of a boy with isolated maternal uniparental disomy of chromosome 20 [UPD(20)mat]. METHODS: A child who was admitted to the Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology on April 8,2021. was selected as the study subject. Phenotypic and endocrinological findings of the child were retrospectively analyzed. Whole exome sequencing (WES) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were carried out for detecting the UPD sequences and copy number variations. Both of his parents were verified by Sanger sequencing. Relevant literature was systematically reviewed. RESULTS: The child, a 3-year-and-8-month-old boy born to a 41-year-old mother by Cesarean delivery at 36⁺² gestational weeks due to oligohydramia, had a birth weight of 2 300 g and length of 46 cm. He was admitted to the NICU for feeding difficulties which had persisted despite of clinical management. At the age of 3.75, he had a height of 92.5 cm (< 3rd percentile; 25th ~ 50th percentile at 2.5 years) and a weight of 10.8 kg (< 3rd percentile; 50th percentile at 15 months). He had also presented with growth retardation, short stature, attention deficit and hyperactivity disorder (ADHD), mild mental retardation, and speech and language development disorders. He had simian creases in both hands but no additional dysmorphic signs, and his motor development was normal. Serum insulin, thyroid-stimulating hormone, and insulin growth factor binding protein 3 levels were within the normal ranges, though insulin growth factor-1 (IGF-1) was slightly decreased. Since that time he had continuously used atomoxetine hydrochloride capsules to control his ADHD. WES and MS-MLPA revealed the existence of UPD (20)mat. CONCLUSION The UPD(20)mat syndrome is characterized by feeding difficulties, growth retardation and short stature. The child in our case has been accompanied by ADHD and speech and language development disorders, which required long-term treatment. For women with advanced maternal age and suggestive phenotypes, genetic testing and counseling should be conducted.
Male ; Pregnancy ; Humans ; Child ; Female ; Infant ; Adult ; Chromosomes, Human, Pair 20 ; DNA Copy Number Variations ; Retrospective Studies ; Uniparental Disomy/genetics* ; Atomoxetine Hydrochloride ; Dwarfism ; Intercellular Signaling Peptides and Proteins ; Language Development Disorders ; Growth Disorders ; Insulins

At The lnstitute of Handicapped Children, 1100 mentally handicapped children with the Griffiths Mental Development Scale (GQ) less than 8O were investigated during a 5 year period between January 1981 and December 1985 to determine the cause of their intellectual deficit, to diagnose their condition and to assess their ability. Of 1100 children, 776 (69.6%) were diagnosed clinically. Cerebral palsy was the most common cause (22.5%) followed by microcephaly (14.6%), seizure disorder (12.4%) and chromosomal anomaly (4.4%). Preventable disorders such as cerebral palsy, chromosomal anomaly, metabolic disorder and endocrinologic disorder were found in 314 cases (28.5%). It is emphasized that prenatal care, fetal monitoring, chromosomal study and a screening test for hypothyroidism and phenylketonuria are indeed required for prevention. When the Griffiths Mental Development Scale was used to assess the children's ability, 96.5% required medical and paramedical treatment such as education and training. In order to assess a mentally handicapped child completely, specialists from various fields are needed to work as a team in an assessment unit where knowledge from all fields can be concentrated. In addition, sociefy as a whole should become more interested in these affairs.
Adolescent ; *Aptitude ; Child ; *Child Development ; Child, Preschool ; Education of Mentally Retarded ; Female ; Human ; Infant ; Male ; Mental Retardation/*etiology ; Prognosis

OBJECTIVE: To explore characteristics of the head traumatic children's intelligence. METHODS: The authors investigated 43 head trauma children and 50 normal children, using Wechser Intelligence Test (C-WISC). Data were analyzed by SPSS10.0 on computer. RESULTS Head trauma children had lower FIQ, VJQ, PIQ than normal children. Pervaded head trauma has more contribution to the damage of the children's intelligence.
Accidents, Traffic ; Adolescent ; Child ; Child Development ; Craniocerebral Trauma/psychology* ; Female ; Humans ; Intelligence ; Intelligence Tests ; Language ; Male ; Wechsler Scales

Developmental language disorder is the most common developmental disability in childhood, occurring in 5-8% of preschool children. Children learn language in early childhood, and later they use language to learn. Children with language disorders are at increased risk for difficulties with reading and written language when they enter school. These problems often persist through adolescence or adulthood. Early intervention may prevent the more serious consequences of later academic problems, including learning disabilities. A child's performance in specific speech and language areas, such as phonological ability, vocabulary comprehension, and grammatical usage, is measured objectively using the most recently standardized, norm-referenced tests for a particular age group. Observation and qualitative analysis of a child's performance supplement objective test results are essential for making a diagnosis and devising a treatment plan. Emphasis on the team approach system in the evaluation of children with speech and language impairments has been increasing. Evidence-based therapeutic interventions with short-term, long-term, and functional outcome goals should be applied, because there are many examples of controversial practices that have not been validated in large, controlled trials. Following treatment intervention, periodic follow-up monitoring by a doctor is also important. In addition, a systematized national health policy for children with speech and language disorders should be provided.
Adolescent ; Child ; Child, Preschool ; Comprehension ; Developmental Disabilities ; Early Intervention (Education) ; Health Policy ; Humans ; Language Development Disorders ; Language Disorders ; Learning Disorders ; Vocabulary

Developmental language disorder is the most common developmental disability in childhood, occurring in 5-8% of preschool children. Children learn language in early childhood, and later they use language to learn. Children with language disorders are at increased risk for difficulties with reading and written language when they enter school. These problems often persist through adolescence or adulthood. Early intervention may prevent the more serious consequences of later academic problems, including learning disabilities. A child's performance in specific speech and language areas, such as phonological ability, vocabulary comprehension, and grammatical usage, is measured objectively using the most recently standardized, norm-referenced tests for a particular age group. Observation and qualitative analysis of a child's performance supplement objective test results are essential for making a diagnosis and devising a treatment plan. Emphasis on the team approach system in the evaluation of children with speech and language impairments has been increasing. Evidence-based therapeutic interventions with short-term, long-term, and functional outcome goals should be applied, because there are many examples of controversial practices that have not been validated in large, controlled trials. Following treatment intervention, periodic follow-up monitoring by a doctor is also important. In addition, a systematized national health policy for children with speech and language disorders should be provided.
Adolescent ; Child ; Child, Preschool ; Comprehension ; Developmental Disabilities ; Early Intervention (Education) ; Health Policy ; Humans ; Language Development Disorders ; Language Disorders ; Learning Disorders ; Vocabulary