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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It has been reported that mental retardation due to congenital hypothyroidism can be prevented by early detection and early adequate replacement therapy. We have developed a radioimmunoassay for TSH using the dried blood spot and have started screening for newborn congenital hypothyroidism using a part of sample of the inborn metabolic error screening. (1) The dried blood spot TSH of 61,000 newborn infants was assayed in the first half of our screening and that of 74,505 newborn infants was assayed in the latter half of our screening. As a result, although we were not able to detect any cases in the first screening, we were able to detect 9 cases of congenital hypothyroidism in the latter screening. From the results obtained through our investigation of the thyroid function of these 9 infants, we confirmed that mild hypothyroidism can be better detected by the screening of TSH. (2) As to the program of the screening, we chose from the latter half of our screening all the samples in which TSH concentrations contained above 3 percent of each assay and were remeasured on the next assay. (3) As we confirmed that the sensitivity of measurement was increased at very low concentrations, when the volume of antibodies, radioisotopes and eluates used for each assay were decreased, we measured TSH successfully using two 3 mm discs. (4) As we can perform very simple screening by the 3 mm disc method, we are changing the screening method from that with 10 mm disc to one with two 3 mm discs. We intend to extend our screening, and will make every effort to prevent mental retardation due to congenital hypothyroidism.
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PMID:[Early detection of congenital hypothyroidism by TSH radioimmunoassay using filter paper blood samples (author's transl)]. 52 Jun 28

A sensitive, specific, rapid radioimmunoassay is described for the determination of thyrotropin (TSH) in eluates from two 3 mm discs punched from dried blood filter-paper specimens. This method is sufficiently sensitive to easily discriminate between normal infants and infants with primary hypothyroidism. The use of two 3 mm discs enables screening laboratories to easily incorporate this methodology into the currently available, fully automated systems to screen for several metabolic disorders. Since mental retardation occurs in untreated infants with primary hypothyroidism, our TSH method as the primary screening test alone, or in association with a thyroxine (T4) screening test, should detect all infants with primary hypothyroidism with a very acceptable low false-positive recall rate.
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PMID:Adaptation of TSH filter paper method for regionalized screening for congenital hypothyroidism. 87 62

A woman in her 24th week of gestation was referred for treatment of hypothyroidism, after she underwent radioablation of the thyroid during the 13th week of gestation. Because of the high risk of hypothyroidism in the fetus, prenatal administration of intramuscular T-4 to the fetus was begun at 32 weeks. The last dose of T-4 was given 2 weeks before delivery; cord blood levels of T-4 and T-3 were undetectable and the TSH concentration was markedly elevated. The case illustrates several important physiological concepts regarding thyroid hormone and TSH metabolism in the fetal-placental unit, including the minimal placental permeability to iodothyronines and TSH, independent function (including feedback control) of the fetal hypothalamic-pituitary-thyroid axis, and the TSH response at parturition. In addition we suggest that administration of T-4 to the hypothyroid fetus in utero is an acceptable modality of treatment and may help to minimize irreversible mental retardation in known high risk infants. However, further studies are necessary to assess the effectiveness and safety of this approach.
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PMID:Intra-uterine treatment of a hypothyroid fetus. 111 55

The syndromes of thyroid hormone resistance may affect overall or only some tissues. The generalized resistance is an inherited disease which involves a familial eumetabolic or hypometabolic goiter, increased free thyroid hormones with normal or elevated plasma TSH levels; children may present mental retardation, deafness, short stature and delayed bone age. The disease is frequently misdiagnosed. In vivo and in vitro tests may be used to assess the diagnosis. The defect of increment of sex hormone-binding globulin after administration of T3 may be useful in the demonstration of the disease. Therapy uses high T4 or T3 doses in hypometabolic patients. The generalized thyroid hormone resistance could be linked to abnormalities at the T3 receptor and c-erb A gene level, as a consequence of different point mutations or deletions involving the hormone-binding domain.
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PMID:Thyroid hormone generalized resistance. 130 19

The studies included 64 children with newly diagnosed epilepsy, aged from 6 to 15 years of life. In 25 children with partial and secondary generalized seizures monotherapy with carbamazepine was introduced; in 19 children with primary generalized seizures--with phenobarbital, and in patients with both types of seizures--with primidone. Monotherapy was controlled by means of blood serum drug concentration level monitoring; the therapy was successful in all the children. The group did not include patients with mental retardation, and epilepsy was idiopathic. Prior to the institution of treatment, a single determination of blood serum triiodothyronine, thyroxine, TSH, prolactin, cortisol, LH and testosterone was made. Psychological test were carried out employing Wechsler's scale, Bender-Santucci test, rhythmic structures developed by Mira Stambak and test of manual dexterity (card display). In order to evaluate short-term effects of the employed drugs upon the blood serum concentration values of the studied hormones, a repeated determination was made one month after the initiation of therapy. The third determination was made one year after the onset of treatment in order to assess the long-term effects. The effect of drugs upon their cognitive functions was assessed in a follow-up psychological testing performed after one year of therapy. The studies combined with statistical analysis led to a conclusion that after one month of monotherapy there occurred a significant drop in thyroxine concentration levels, still augmented after one year. Patients treated with carbamazepine showed a significant decrease of T3 levels after one month and one year, whereas treatment with phenobarbital and primidone did not result in significant changes of T3 concentration. Yet, T3 and T4 concentration values did not exceed normal limits. No type of monotherapy resulted in significant long-term changes of TSH concentration levels. No clinical signs of hypothyroidism nor goiter were observed in the studied children. After one month of monotherapy with carbamazepine and phenobarbital there was observed a significant increase of prolactin and cortisol levels, which was absent after one year. The values observed did lie within normal limits. No significant changes were observed with respect to the effect of the studied drugs upon blood serum LH and testosterone levels. After a one-year monotherapy with primidone the children revealed a significant improvement of results measured on performance scale and by means of a full Wechsler scale. Carbamazepine and phenobarbital did not affect the intelligence quotient of the studied children.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[The effect of monotherapy on concentration of selected blood serum hormones and upon cognitive function of children with epilepsy]. 134 59

In trisomy 21, pathogenesis of mental retardation is still poorly understood although the knowledge of the genic content of chromosome 21 is steadily increasing. Short of discovering how to silence selectively one of the 3 chromosomes 21, no rational medication can be envisaged before pathogenesis has been unraveled, at least partially. A biochemical scheme of impairment of mental efficiency is presented. Secondarily, the possible deleterious effects of a given gene overdose are discussed. Cu/Zn SOD, cystathionine beta synthase, S 100 beta protein, phosphofructokinase, purine synthesis and adenosine pharmacology, thyroid disturbance, and elevated TSH with low rT3 as well as biopterine metabolism interferences are reviewed. It is observed that the metabolic paths controlled by these genes, although unrelated at first glance, are in fact tightly related by their effects, just as if synteny was in some way related to biochemical cooperation or mutually controlled regulation. Experiments in vitro have demonstrated a peculiar sensitivity of trisomic 21 lymphocytes to methotrexate. From this starting point, systematic research of special sensitivities has begun. Clinical observations and relevant statistical methods allow study of the speed of mental development under various medications. The interest of regulating thyroid metabolism, when needed, is exemplified. Reequilibration of monocarbon metabolism is discussed and the seemingly favourable effect of folinic acid medication in pseudo-Alzheimer complication is presented.
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PMID:Pathogenesis of mental deficiency in trisomy 21. 214 47

Congenital hypothyroidism is a preventable cause of mental retardation. Since clinical signs of congenital hypothyroidism do not generally become obvious before three months of age, screening programmes have been introduced in North America and Europe, which consist of T4 or TSH screening on newborn infants on the third day of life. The screening for congenital hypothyroidism was initiated in Pakistan by the Aga Khan University Hospital (AKUH) in March 1987. By April 1988, 5000 neonates were screened and five cases of congenital hypothyroidism were diagnosed. The study revealed the incidence of hypothyroidism to be one case per 1000 newborns which is about 4 times more than that in the West.
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PMID:Neonatal screening for congenital hypothyroidism in Pakistan. 251 33

This paper describes the clinical, hormonal and radiologic profiles in 282 children evaluated for hypothyroidism. Short stature, mental retardation or puberal disturbances were often the presenting features in the older age group, whereas in the 1-5 years age group medical opinion was usually sought for symptomatology suggestive of thyroid hypofunction. Children in the 0-1 year group were suspected on the basis of psychomotor dysfunction. Skeletal immaturity was found in 93.0% of patients with overt hypothyroidism and in 36.6% cases with normal thyroid profiles but associated with malnutrition. High TSH levels were noted in 70.9% of the cases studied. 4.9% and 7.3% patients with normal TSH had low T3, and T4 levels respectively. FSH, testosterone and PRL levels were also affected in some patients with overt hypothyroidism. Therapeutic responses based on at least 1 year follow up were available in 170 cases. The results are discussed.
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PMID:Hypothyroidism in children/adolescents. Clinical and hormonal profiles. 263 58

The cause of autism is unknown. Recently, it has been suggested that it involves metabolic disorders of serotonin and/or dopamine. On the other hand, there is a close relationship between hormone secretion and monoamines. The aim of this study was to analyze the secretion of GH, PRL, TSH, cortisol, LH and FSH. The subjects were 30 children with autism, 25 males and 5 females, aged from 1 10/12 to 9 10/12 years. Their IQs (DQs) ranged from 34 to 123. Pituitary hormone secretion was measured during provocation with insulin (0.1 unit/kg), TRH (10 micrograms/kg) and/or LH-RH (100 micrograms/m2) in 26 of 30 cases. Control subjects included 16 age-matched children with attention deficit disorder (ADD) and 18 age-matched children with mental retardation (MR) without autistic and organic central nervous diseases. The 24-hour secretion rhythm of GH, PRL and cortisol for 14 cases with autism and of LH and FSH for 9 cases was also investigated. In insulin provocation test, the peak values of GH and delta GH (peak GH level minus baseline GH level) in ADD were significantly higher than those in MR (p less than 0.05). In TRH provocation test, the peak values of TSH and delta TSH in autism were significantly lower than those in MR. Five cases of autistic children revealed borderline responses for TSH, while the only one each of ADDs and MRs revealed borderline responses for TSH. In a study of the 24-hour hormone secretion rhythm, eleven of the 14 autistic children showed an abnormal secretion rhythm.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Neuroendocrinologic studies on autism]. 271 59

Congenital hypothyroidism is a relatively common endocrine disorder, affecting one in 4000 newborn infants. Undiagnosed and untreated congenital hypothyroidism will result in un-toward consequences, including mental retardation and other significant neurologic sequelae. For these reasons, programs to screen newborns were developed to detect congenital hypothyroidism before clinical features become obvious enough to suggest the diagnosis. The most common clinical features include prolonged jaundice, skin mottling, hypotonia, umbilical hernia, constipation, and macroglossia. Congenital hypothyroidism may be caused by several different disorders; ectopic thyroid glands represent the most common cause. There is accumulating evidence that autoimmune thyroid disease as manifested by TBII may be the cause of thyroid dysgenesis in some cases. The diagnosis is easily confirmed by finding a low serum free T4 or total T4 and elevated serum TSH concentration. The treatment of choice is levothyroxine; these infants must be followed carefully to ensure normal growth and development and maintenance of serum T4 and TSH within the normal ranges. With appropriate treatment and follow-up, the large majority of these infants have an excellent prognosis, with an IQ no different from comparison populations. However, it appears that there is still a small percentage of infants who are the most severely affected, who manifest the lowest serum T4 levels, thyroid aplasia, and retarded bone ages, and who may run the highest risk for some degree of retardation and other neurologic sequelae. Acquired hypothyroidism is also a relatively common disorder, occurring in one in 500 to one in 1000 school-age children. These children most commonly have a slowdown in growth, short stature, a goiter, and a drop in school performance. Other clinical features may be subtle or absent except in more severe or long-standing cases. The most common cause is chronic lymphocytic thyroiditis. The diagnosis is easily established by finding low serum-free T4 or total T4 and elevated serum TSH concentrations. Again, levothyroxine is the treatment of choice. With appropriate treatment and follow-up, all clinical features that develop after age 3 should be reversible and the prognosis should therefore be very good.
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PMID:Diagnosis and treatment of hypothyroidism in children. 331 7


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