Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment.
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PMID:Reassessment on the development of children with disability in Malaysia. 1893 25

We report on multiple genomic aberrations in a patient with mental retardation. In addition, he had hypogonadism, elevated thyroid hormone levels, hearing loss, delayed speech development and mild dysmorphic features. First, we identified a mosaic karyotype, 45,X/46,X,psu dic(Y). The pseudo-dicentric Y chromosome has three short arm segments. Second, we found a germline mutation (Pro453Thr) of the thyroid hormone receptor beta (THRB) which is associated with resistance to thyroid hormone. Third, he was found to be a carrier of a heterozygous ATP7B mutation (c.2575 + 5G > C), the Wilson disease gene. Even though an array-CGH (with a density of approximately 1 Mb) did not reveal any further genomic gains or losses, we cannot exclude that all contributing factors have been identified. However, this case report shows that with increasing technological possibilities we can find more than one cause for developmental problems in a single patient. The identification of multiple causes in a single patient may complicate explaining the disorder and genetic counseling.
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PMID:Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease. 1972 32

BACKGROUND Genome-wide screening of large patient cohorts with mental retardation using microarray-based comparative genomic hybridisation (array-CGH) has recently led to identification several novel microdeletion and microduplication syndromes. METHODS Owing to the national array-CGH network funded by the French Ministry of Health, shared information about patients with rare disease helped to define critical intervals and evaluate their gene content, and finally determine the phenotypic consequences of genomic array findings. RESULTS In this study, nine unrelated patients with overlapping de novo interstitial microdeletions involving 4q21 are reported. Several major features are common to all patients, including neonatal muscular hypotonia, severe psychomotor retardation, marked progressive growth restriction, distinctive facial features and absent or severely delayed speech. The boundaries and the sizes of the nine deletions are different, but an overlapping region of 1.37 Mb is defined; this region contains five RefSeq genes: PRKG2, RASGEF1B, HNRNPD, HNRPDL and ENOPH1. DISCUSSION Adding new individuals with similar clinical features and 4q21 deletion allowed us to reduce the critical genomic region encompassing two genes, PRKG2 and RASGEF1B. PRKG2 encodes cGMP-dependent protein kinase type II, which is expressed in brain and in cartilage. Information from genetically modified animal models is pertinent to the clinical phenotype. RASGEF1B is a guanine nucleotide exchange factor for Ras family proteins, and several members have been reported as key regulators of actin and microtubule dynamics during both dendrite and spine structural plasticity. CONCLUSION Clinical and molecular delineation of 4q21 deletion supports a novel microdeletion syndrome and suggests a major contribution of PRKG2 and RASGEF1B haploinsufficiency to the core phenotype.
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PMID:Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. 2052 26

Smith-Magenis syndrome (SMS), which occurs as a result of an interstitial deletion within chromosome 17p11.2-p12, is a disorder that presents itself with minor dysmorphic features, brachydactyly, short stature, hypotonia, delayed speech, cognitive deficits and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behavior. We present a girl with full SMS phenotype. G-banding cytogenetic analysis showed normal 46,XX karyotype. Whole-genome array comparative genomic hybridization (CGH) was performed due to the severity of the phenotype and the unusual features present in the patient. An interstitial deletion in 17p11.2-p12, approximately 4.73 Mb in size was determined. Characteristic physical and behavioral phenotype strongly suggested SMS. This, to the best of our knowledge is the first patient with SMS reported in Turkey. We emphasize the need for whole genome analysis in multiple congenital abnormalities/mental retardation disorders with unusual and severe phenotypes.
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PMID:A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. 2161 83

Ring chromosome 14 (r14) is clinically characterized by early-onset epilepsy, mental retardation, delayed speech, microcephaly, extremely mild facial dysmorphisms and ophthalmologic abnormalities. We report a case presenting with partial seizures and delayed development in infancy in which r14 was diagnosed based on chromosomal analysis. The patient was a girl with a normal family and delivery history. Afebrile generalized convulsions developed at age 9 months, and phenobarbital was started, but was changed to zonisamide due to impaired liver function. Chromosome analysis led to a diagnosis of 46, XX, r(14) (p11.2q32.3). At age 5 years, while under treatment with zonisamide and clobazam, epilepsy was characterized by multiple daily episodes of complex partial seizures. Although there are no consistent brain MRI or electroencephalogram findings, experienced pediatric neurologists can make a diagnosis based on facial dysmorphisms. When refractory epilepsy is encountered in infancy with developmental delay of unknown cause, chromosome analysis should be performed.
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PMID:Partial epilepsy and developmental delay in infant with ring chromosome 14. 2361 Aug 69

Deletion Syndrome 22q13 (or Phelan-McDermid Syndrome) is a very rare genetic disorder characterized by general neonatal hypotonia, absent to delayed speech, and global developmental delays. With only 600 cases reported worldwide, the disease remains largely under-diagnosed, but diagnosis is on the rise. Current thinking suggests that 22q13 Deletion Syndrome may be one of the principal causes of idiopathic mental retardation. Patients with Phelan-McDermid Syndrome, especially children, can be a challenge for dental professionals, as it is often associated with autism. Dentists see patients with all kinds of special needs, developmental conditions and disabilities. Children with Phelan-McDermid Syndrome need dental care just like every other child. As with other autism-related disorders, children with Phelan-McDermid Syndrome need sameness and continuity in their environment. The dental literature, however, offers very little information to aid the dentist in the management of these children. This article aims to make dentists aware of the disorder and provides tips and recommendations that dentists may find helpful to manage Phelan-McDermid children more effectively.
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PMID:Deletion syndrome 22q13: what the dentist should know to manage children with Phelan-McDermid syndrome effectively. 2524 97

Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromosomes. Monosomy 18p may either occur by itself or with a structural alteration of the remaining chromosome 18, as a ring or as an isochromosome. The clinical presentation of this syndrome often overlaps with other syndromes. Establishing a cytogenetic diagnosis and understanding the location of the breakpoints is crucial for precise management and follow-up. We present here a rare case with mosaicism for a de novo deletion of 18p with isochromosome 18q in a boy born to a consanguineous Omani couple.
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PMID:A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome. 2762 52

Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III. Method Thirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system. Results Among the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations. Conclusion When language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.
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PMID:Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients. 3244 33


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