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

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

The aim of this study was to evaluate anxiety, depression, alexithymia, and general psychological symptoms in the mothers of autistic children in comparison with those in the mothers of mentally retarded children. Forty mothers of autistic children and 38 mothers of mentally retarded children were included in the study. After a clinical interview, psychometric tests were performed for depression, anxiety, alexithymia, and Symptom Distress Check List (SCL-90) for general psychological symptoms. Non-depression rates was 27.5% in the mothers of autistic children whereas the rate was 55.3% in the mothers of mentally retarded children. There was no difference regarding anxiety and alexithymia between the two groups. The psychopathology in the mothers of autistic children was more frequent than in those of mentally retarded children in all sub-scales of SCL-90 (somatization obsessive-compulsive, interpersonal sensitivity, depression, anxiety, anger-hostility, phobic anxiety, paranoid thought, psychotism, and extra scale). The mothers of autistic children experienced more psychological distress than those of mentally retarded children. Our findings indicates that the assessment of autistic and mentally retarded children should include psychological assessment of their mothers.
Adult ; Affective Symptoms/etiology ; Anxiety/etiology ; Autistic Disorder/*psychology ; Child ; Child, Preschool ; Cross-Sectional Studies ; Depression/etiology ; Female ; Humans ; Male ; Mental Retardation/*psychology ; *Mother-Child Relations ; Psychopathology ; Turkey

Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.
Brain ; physiopathology ; Epilepsy ; etiology ; genetics ; pathology ; Fragile X Mental Retardation Protein ; genetics ; metabolism ; Fragile X Syndrome ; complications ; genetics ; Humans ; RNA-Binding Proteins ; metabolism

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.
Atrophy ; Case Report ; Fingers ; Human ; Hypohidrosis/pathology* ; Hypohidrosis/complications ; Infant ; Korea ; Male ; Mental Retardation/pathology ; Mental Retardation/complications ; Microscopy, Electron ; Nerve Fibers/ultrastructure ; Nerve Fibers/pathology ; Pain Insensitivity, Congenital/pathology* ; Pain Insensitivity, Congenital/complications ; Self Mutilation/pathology ; Self Mutilation/etiology ; Sural Nerve/pathology ; Tongue