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

Costello syndrome is a rare congenital disorder whose diagnosis is based on clinical findings. The underlying genetic cause has not been identified. Common characteristics include failure to thrive, feeding problems, short stature, coarsening of facial features, developmental delay, mental retardation, skeletal problems, cardiac complications, and increased risk for solid tumors. Given its rarity, existing literature is limited regarding its natural course. Developmental milestones and intellectual functioning have never been systematically studied in this population, therefore this study focused on defining developmental and intellectual attributes. Data was obtained through solicited participation at the 3rd International Costello Syndrome Meeting. A total of 18 children (age 3-20 years) were administered the Leiter-R brief-IQ and the Peabody picture vocabulary test (PPVT)-III to assess nonverbal cognitive functioning and receptive vocabulary. Parents/guardians completed the child behavior checklist (CBCL) and participated in an interview process to complete the survey form of the Vineland adaptive behavior scales to assess emotional/behavioral issues and adaptive behavior. Results indicated that nonverbal cognitive functioning ranged from 1.5 to 4.3 SD below the age mean. Receptive vocabulary skills ranged from average functioning to 4 SD below the age mean. Adaptive behavior composites were all in the low range (2.0 to >5.0 SD below age mean), however there was significant variability in the range of domain scores. CBCL results ranged from normal to clinically significant across various clinical parameters. These data support a generalized descriptive pattern of developmental delay and mental retardation, with noted variability in receptive language, level of adaptive behavior functioning, and emotional/behavioral aspects. Skills and behavior are compared to existing literature of children with various syndromes.
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PMID:Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. 1526 85

We describe the case of a 12-year old boy with Hoyeraal-Hreidarsson Syndrome (HHS). This syndrome includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. HHS is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. The pathogenesis and genetic basis presently is unknown. Onset of HHS has only been described in boys and reporters speculated that HHS may be a severe form of X-linked dyskeratosis congenita (DKC). In this paper, we reported an autosomal recessive form of HHS in a family. Almost all cases have died before 4 years (except one at 7 years) our patient is alive at his 12th year at all, probably because of autosomal recessive gene transmission.
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PMID:The longest surviving child with Hoyeraal-Hreidarsson Syndrome. 1537 90

Congenital Central Hypoventilation Syndrome (CCHS, also known as Ondine's Curse) is a rare syndrome characterized by apnea, cyanosis, and hypotonia. A 4-year-old, 90-cm, 12-kg girl with CCHS, mental retardation (MR), and Hischsprung's disease (HD) was treated under general anesthesia. Intravenous drugs were not used, but sevoflurane, a volatile anesthetic, was used. As a result, the recovery time from the end of the operation to returning to the ward was very short, only 18 minutes. There was no trouble during the perioperative period. We safely performed general anesthesia and dental treatment for a girl who had CCHS with HD and MR.
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PMID:Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment. 1549

Smith-Magenis Syndrome (SMS) is a complex, pediatric, neurobehavioral, contiguous gene syndrome ascribed to interstitial microdeletion of chromosome 17, band 11.2. The syndrome is characterized by distinctive behavioral, neurocognitive, and neuropsychiatric abnormalities. This genetically mediated disorder of mental retardation prompts behavioral researchers to examine the links between genes, brain, and behavior in order to solve the gene-behavior puzzle and the genotype/phenotype correlation. In this article, the authors review literature on behavioral profile and its associated psychopathologies, cognitive profiles, multisystem abnormalities, and genetic correlates that highlight the complexities of the disorder.
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PMID:The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review. 1574 88

Prader-Willi Syndrome (PWS) is a genetic disorder characterized by hypotonia, mental retardation or learning disability, hyperphagia and compulsive eating due to hypothalamic dysfunction. Obesity is a major cause of increased morbidity and mortality among patients with PWS. Gastric restrictive surgery has been associated with partial breakdown of the staple-line in PWS. We report two patients with PWS associated with morbid obesity and obstructive sleep apnea who underwent biliopancreatic diversion (BPD). A 27-year-old male with BMI 52 kg/m(2) and a 20 year-old female with BMI 64 kg/m(2) underwent BPD. No perioperative complications were observed. After BPD, the male's BMI was 36.7 kg/m(2) at 12 months and the female's BMI was 48.4 kg/m(2) at 28 months, with excess weight loss 58% and 48%, respectively. They developed loose stools associated with eating. These patients have shown a considerable improvement in hypersomnia and respiratory difficulties. BPD proved to be an effective approach to weight loss in PWS, resulting in improvement of sleep apnea, behavior problems and quality of life.
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PMID:Results of biliopancreatic diversion in two patients with Prader-Willi syndrome. 1597 69

Mowat-Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype caused by defects of the transcriptional repressor ZFHX1B. To address the question of clinical and mutational variability, we analysed a large number of patients with suspected Mowat-Wilson Syndrome (MWS). Without prior knowledge of their mutational status, 70 patients were classified into "typical MWS", "ambiguous" and "atypical" groups according to their facial phenotype. Using FISH, qPCR and sequencing, ZFHX1B deletions, splice site or truncating mutations were detected in all 28 patients classified as typical MWS. No ZFHX1B defect was apparent in the remaining 15 cases with ambiguous facial features or in the 27 atypical patients. Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects. Our findings indicate that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum. We also show that agenesis of the corpus callosum and urogenital anomalies (especially hypospadias) are significant positive predictors of a ZFHX1B defect. Based on our observation of affected siblings and the number of MWS cases previously reported, we suggest a recurrence risk of around 1%. The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor.
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PMID:Clinical and mutational spectrum of Mowat-Wilson syndrome. 1605 2

Syndromes with smooth muscle dysmotility are uncommon, and may be related either to smooth muscle myopathy, or to neuropathy. In most instances, neuropathic visceral dysmotility is an isolated finding leading to chronic intestinal pseudo-obstruction syndrome (CIPO). We report here on two sibs, born to consanguineous parents, with neuropathic visceral dysmotility and CNS anomalies. They share facial dysmorphia, neurogenic megacystis, intracerebral calcifications, and developmental delay. The elder one, a girl, has microcephaly and multicystic kidneys, and her brother has a more extensive neuropathic visceral disorder leading clinically to CIPO. CIPO associated with megacystis is relatively frequent but is rarely associated with mental retardation. The cases reported in the literature are different from those described here, clinically and histologically. A recessively inherited form of CIPO associated with widespread intra-cerebral calcifications, malabsorption is known as Cockel syndrome. Severity of Cockel syndrome, absence of urinary tract involvement and neuropathologic discrepancies allow distinction with the disorder reported here. In conclusion, the two siblings described here have facial dysmorphia, vesical and (in one of them) intestinal neurogenic dysmotility, intracerebral calcifications and developmental delay that could represent a specific, recessively inherited form of CIPO.
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PMID:Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome? 1637 21

Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with considerable clinical variability, and is considered to be mainly the result of a hypothalamic defect. PWS is characterized by hyperphagia, obesity, mental retardation and hypogonadism from a young age. Hyperphagia is one of the most serious problems, which is organic in origin, inducing morbid obesity and leading to respiratory failure. Most studies attempting to control obesity in children with PWS by dietary management reported limited success due to difficulty in controlling foraging and food stealing. Here we report 16- and 20-year-old female patients with PWS who showed marked weight loss and improvement of respiratory failure by behavior modification and improvement of the environment.
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PMID:[Marked weight loss in two female patients with prader-willi syndrome by behavioral modification and improvement of the environment]. 1654 41

Tyrosinemia type II or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, mental retardation, and elevated blood tyrosine levels. The disease is due to a deficiency of hepatic cytosolic tyrosine aminotransferase (TATc), an enzyme involved in the tyrosine catabolic pathway. Because of the high rate of consanguinity this disorder seems to be relatively common among the Arab and Mediterranean populations. RHS is characterized by inter and intrafamilial phenotypic variability. A large spectrum of mutations within TATc gene has been shown to be responsible for RHS. In the present study, we report the clinical features and the molecular investigation of RHS in three unrelated consanguineous Tunisian families including 7 patients with confirmed biochemical diagnosis of tyrosinemia type II. Mutation analyses were performed and two novel missense mutations were identified (C151Y) and (L273P) within exon 5 and exon 8, respectively. The 3D-structural characterization of these mutations provides evidence of defective folding of the mutant proteins, and likely alteration of the enzymatic activity. Phenotype variability was observed even among individuals sharing the same pathogenic mutation.
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PMID:Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. 1657 53

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
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PMID:Partial HPRT deficiency (Kelley-Seegmiller syndrome). 1664 40


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