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

Three new cases of a syndrome including osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications are reported in the same sibship. This rare syndrome has an autosomal recessive inheritance and is due to carbonic anhydrase II deficiency. Fractures and mild sensorial manifestations were noticed in 2 cases. Mental deficiency and otitis were present in the 3 cases. Blood count and phosphocalcic metabolites were normal. A proximal tubular acidosis was present in each case. The radiological features were specific: cerebral calcifications were present in all cases since the age of 2 1/2 years; osteocondensation and bone modeling were predominant in long bones metaphyses. Alcalinization improved the height growth.
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PMID:[Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings]. 190 5

Adenoidectomy and tonsillectomy are the most common major operations done on children. The indications for tonsillectomy in certain clinical situations are constantly being debated in the literature and among professionals. We studied the efficacy (or lack of it) of adenotonsillectomy for chronic tonsillitis (recurrent throat infections), oral nasal obstruction, peritonsillar abscess, elimination of a bacterial carrier state, biopsy, and prevention of tongue thrusting with resultant anterior open bite. Adenoidectomy has been advocated in the literature for the treatment of nasal obstruction, sinusitis, and chronic serous otitis media. Complications of tonsillectomy and adenoidectomy include hemorrhage, anesthetic death, infection, nasopharyngeal stenosis, patulous eustachian tube, and hypernasality. Children at risk for hypernasality are those with mental retardation, cerebral palsy, neuromuscular disorders, and submucous cleft of the soft palate. Because of the severity of the complications that can be encountered in any child, medical and conservative therapy should be attempted before operation is done. Proper antibiotic therapy will often control chronic serous otitis, sinusitis, and chronic, recurrent tonsillitis. Bacterial synergy is important to consider when selecting antibiotic therapy, since beta-lactamase production may protect pathogens commonly considered susceptible to standard antibiotic therapy.
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PMID:Adenotonsillectomy in children: indications and contraindications. 316 79

Delay in language development may be associated with an underlying anatomical, neurosensory, or psychological disorder such as: deafness, cerebral palsy, cleft palate, autism, or mental retardation. A condition called specific developmental language delay may occur in children devoid of any other identifiable disorder or developmental delay. Language delay associated with early onset, severe-to-profound hearing impairment has been well documented. Controversial studies have also appeared in the communicative disorders' literature suggesting that fluctuating conductive hearing loss in early childhood can significantly affect the development of language and related academic skills. Some authors have claimed that these deleterious effects can be irreversible. This study focuses on 3 groups of preschool children, in whom hearing acuity has been documented: One group with recurrent otitis and language delay; a second group with an equally well documented otitis history but without language delay; and a third group with documented language delay in the absence of any known predisposing conditions, including early-onset, recurrent otitis media. Prenatal, birth and developmental histories of the children in each group were compared in detail to identify any factors which may enhance or ameliorate the effects of fluctuating conductive hearing loss on language development. In a population of 1864 children (ages 9-59 months) referred for otolaryngologic and/or communicative evaluation, 480 otherwise normal children (67.6% males; 32.4% females) were found to have a history of early-onset, recurrent otitis media and/or delayed speech and language development on the basis of an extensive evaluation battery. This population was further subdivided into 3 groups (I = otitis-positive/normal language; II = otitis-positive/language delay; and III = otitis-free/language delay). Among the 329 children with positive histories for early otitis media (Groups I & II), a significantly higher percentage of those demonstrating language delay were from homes in the lower socio-economic category. Race and sex showed no significant relationship to language delay among the otitis-positive groups, although males were twice as numerous as females in the over-all study population. Articulation errors on speech measures and borderline delays in other developmental milestones (standing, walking, and toilet training) were also significantly greater in the language-delayed group when compared with otitis-positive children whose language was age-appropriate.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Medical profile of the language-delayed child: otitis-prone versus otitis-free. 358 81

We report the case of a 27-year old woman who presented hypocalcemia and hyperphosphoremia during her first pregnancy. Her phenotype was in favor of Albright's hereditary osteodystrophy: short stature, obesity, round face, brachymetacarpy and mental retardation. However, the diagnosis of pseudohypopara thyroidism type Ia was ruled out due to low PTH level (10 pg/ml). The patient's 22q11 microdeletion was suspected and identified because of the association of severe neonatal hypocalcemia, abnormal face and renal malformation in her children. Deletion 22q11 leads to various syndromes, including Di George syndrome, also referred to as CATCH 22 syndrome (Cardiac defect (C), Abnormal face (A), Thymic hypoplasia (T), Cleft palate (C) and Hypocalcemia (H)). Retrospectively, the patient presented with symptoms suggestive of CATCH 22: abnormal face, hypernasal voice suggestive of velopharyngeal insufficiency, mental retardation, recurrent otitis in childhood. It is also noteworthy that there was an idiopathic thrombocytopenic purpura. In conclusion, while the phenotype was suggestive of Albright's hereditary osteodystrophy, the constatation of a low PTH level would cast doubt on this diagnosis. Furthermore, the 22q11 microdeletion should be searched by FISH (Fluorescence In Situ Hybridization) in all patients with hypopara thyroidism of unknown origin, even in the absence of cardiac malformations. Finally, it seems that patients with CATCH 22 would be predisposed to auto-immune disease as a result of thymic dysfunction.
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PMID:[Pseudohypoparathyroidism or hypoparathyroidism? A misleading clinical presentation]. 1184 29

The objective of this study was to compare the outcomes at 5 years of age of SGA and AGA children born < 28 weeks of gestation. The method used was a longitudinal follow-up of a cohort of 37 dyads of SGA and AGA infants matched by gestational age (GA), gender, and date of delivery. Mean GA was 26+/-1.2 weeks, and BW was 638+/-77 g for SGA and 833+/-134 g for AGA (P < 0.0001). The SGA infants remained lighter at 3, 24, and 60 months. Their head circumference was statistically smaller at 3 and 60 months, and their length remained lower but no longer statistically significant. There was no difference after the second year of life between SGA and AGA children in the need for rehospitalization (16% versus 11%) and the incidence of medical problems such as Otitis (38% versus 41%) and asthma (24% versus 30%). SGA exhibited more neurodevelopmental deficits (41% versus 30%) and severe handicaps, including CP, blindness, deafness, and mental retardation (22% versus 14%). Those deficits were seen predominantly in association with microcephaly, which was more prevalent in the SGA group. We conclude that the combination of severe prematurity and intrauterine growth retardation constitutes a serious developmental handicap and predisposes to physical and developmental delays. The presence of microcephaly further aggravates the prognosis.
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PMID:Outcome at 5 years of age of SGA and AGA infants born less than 28 weeks of gestation. 1556 89

Rarely in the history of medicine has an X-linked mental retardation syndrome so thoroughly entered every branch of medicine, at least of pediatrics, but also of internal medicine, on account of its protean manifestations. In such countries as Zambia, malaria, tuberculosis, HIV, and other infections diseases, and many environmental and nutritional disorders still top the list of childhood morbidity and mortality. However, in the more developed nations of the Old and New Worlds, prematurity, birth defects, and genetic conditions constitute the major burden of infant mortality adn chronic childhood handicaps. One of the most pervasive of these is the group of FG syndromes seen in every pediatric clinic and mental health service. Thus, in our experience FGS emerges as the most common yet the least known developmental disabilities condition in our society. FGS imposes a tremendous burden of morbidity, and to some extent also of mortality, on society and families. After successful neonatal adaptation, such recurring problems as otitis, reactive airway disease, and constipation can be routinely treated symptomatically. However, the neurodevelopmental burden represents the greatest challenge that FGS presents for families and to society. Under the best of circumstances, motor and speech development catch up. However, virtually all FGS children, boys and girls, have difficulties in psychologic development, school performance, and ultimate emotional adaptation to adult life and social integration. The many such cases added to those with outright psychiatric disturbances are overwhelming social, psychologic, and psychiatric services and, above all, public and private school systems, which are understaffed, under-funded, beyond formulating individual educational plans, and helpless to deal with the enormous burden of special service needs of these children. It's time that handicapped children receive care according to needs and not according to diagnosis. However, the near absence of information on FGS available to these professionals is a handicap in arriving at a specific diagnosis (allowing state and federal support for special services) and in understanding the prognosis, natural history, and such complications as "autism," seizures, and tethered cord that affect the child's success at home, in school, and out in society. The FGS parent support group has been of enormous help in informing families about all of these "issues," and to this day remains the greatest repository of knowledge on FGS. As they say in baseball, it is time at long last for the professionals "to step up to the plate."
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PMID:The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. 1904 30