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

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

The population screened for mental retardation consisted of 12,882 children, 8 years old. One hundred and fifty-one mentally retarded children were clinically studied. No borderline case was included. One hundred and one children were randomly chosen to form a control group. On clinical examination the children were 9-10 years old. Tympanograms were obtained from 206 children (81.8%). The tympanograms in respect to 30.9% of ears were classed as abnormal in the case of mentally retarded children, but in only 17.8% of non-retarded children. The difference is statistically significant (P less than 0.01). Pure tone audiometry was performed in 213 children. Thirty children were tested in open sound field, and 9 children remained untested. The examinations revealed 31 children with decreased hearing sensitivity (24 with conductive impairment, 7 with sensorineural hearing loss). Three children with profound sensorineural hearing loss and 21 with conductive impairment were among the mentally retarded. The threshold values were also examined using two-way analysis of variance. The groups were classified according to findings in psychological tests and according to the clinical findings in relation to the tympanic membrane. These two sets of findings constituted the two independent variables. These two factors had a highly significant (P less than 0.001) effect, but their interaction was not significant. Mentally retarded children clearly have middle ear disease much oftener than non-retarded children, and such ear disease is accompanied by decreased hearing sensitivity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Ear disease and hearing sensitivity in mentally retarded children. 662 51

Two cases of Noonan syndrome are observed. The Noonan syndrome is a Turner-like syndrome with normal chromosomal constitution. Essential criteria in diagnosing the syndrome are the facial expression (hyper-telorisme, low-set and malformed ears, micrognathie, fish-like mouth). The short webbed neck and the cubitus valgus. These children are rather small and mental retardation can be present, especially in comparison with their siblings. Associated cardiac malformations occur in approximately 50% of the cases. We insist on audiologic findings. One case has a hearing impairment due to a malformation of the middle ear, recognised radiologically. The other has a deafness of perception type. Yet, the familial occurrence of last patient makes it doubtful whether this hearing loss can be linked to the Noonan-syndrome.
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PMID:[The Noonan syndrome]. 717 Sep 44

Significant hearing loss and external pinna malformations are two of the most common defects evident in Down's syndrome. The external and middle ears are linked embryologically, both arising from the first and second branchial arches. Evidence indicates that the majority of hearing loss in Down's syndrome is conductive in nature, originating from malformations of the middle ear ossicles and/or the eustachian tube. Recent studies also have indicated that hearing loss is a contributing factor to the IQ and learning deficits that afflict most individuals with Down's syndrome. Therefore, an early, external diagnostic feature for predicting conductive hearing loss would be desirable. In the current study, people with Down's syndrome, people with non-Down's mental retardation and control subjects were examined in a clinical environment for the presence of hearing loss and pinna defects. It was found that 90% of the Down's syndrome population had significant hearing loss, compared to slightly more than 50% in the non-Down's group and no hearing loss in the controls. Also, the majority of hearing loss among individuals with Down's syndrome was conductive, while all hearing loss in the non-Down's group was sensorineural. The Down's syndrome population exhibited nearly 3.5 pinna defects per ear, with malformations of the helix being very evident. The non-Down's population exhibited 2.5 pinna defects per ear, with concha defects being the most common.
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PMID:Abnormal pinna type and hearing loss correlations in Down's syndrome. 788 Dec 26

This is believed to be the first report on estimating hearing loss in Hurler's disease, based on the correlation between ABR and temporal bone pathology. ABR findings revealed hearing loss to be about 70 dB or more as result of peripheral mixed impairment. A histological study of the temporal bones revealed almost all pathological findings in the conductive system, except for the hyperplastic arachnoid in the internal auditory canal. In the middle ear cavity, otitis media, residual mesenchyme and deformity of ossicles were found. We explain the conductive component to be due to otitis media and poor ossicular connection. However, the etiology of the sensorineural component remains speculative. In Hurler's disease, hearing loss with mental retardation is often found at infantile age. Therefore, assessing the extent of hearing loss exactly was difficult, for example, the severity. the etiology and incidence of sensorineural impairment. We emphasize the need for not only well-described pathological studies but also for more objective functional investigations, at least ABR.
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PMID:ABR and temporal bone pathology in Hurler's disease. 957 28

The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissures, long eyelashes, high arched eyebrows, missing lateral incisors and persistent fetal pads on the fingers. The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment. Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory.
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PMID:[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]. 1513 52

We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation--were observed, but each feature was only found once, in a single patient. The microdeletion is approximately 1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome.
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PMID:3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. 1591 53

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation resulting in developmental delays in males. Atypical outer ear morphology is characteristic of FXS and may serve as a marker for abnormal auditory function. Despite this abnormality, studies of the hearing of young males with FXS are generally lacking. A few studies have suggested that a significant proportion of individuals with FXS demonstrate prolonged auditory brainstem response (ABR) latencies. The purpose of this study was to determine whether young males with FXS display atypical auditory brainstem function compared to typically developing males when conductive and sensorineural hearing loss are ruled out as possible contributors to atypical findings. Participants were 23 males with FXS, 21 typically developing males who were matched for developmental age, and 17 typically developing males who were matched for chronological age. A battery of tests to assess peripheral hearing, cochlear function, and auditory pathway integrity through the level of the brainstem was completed. Males with FXS were similar to typically developing males who were matched for developmental age level or chronological age level on all measures. They had normal hearing sensitivity and middle ear function and scored similar to the typically developing children on the measures of auditory brainstem pathway integrity. In summary, ABRs in young males with FXS were within normal limits.
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PMID:Auditory brainstem responses in young males with Fragile X syndrome. 1598 7

The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance. A striking neurobehavioral pattern of stereotypies, hyperactivity, polyembolokoilamania, onychotillomania, maladaptive and self-injurious and aggressive behavior is observed with increasing age. The diagnosis of Smith-Magenis syndrome is based upon the clinical recognition of a constellation of physical, developmental, and behavioral features in combination with a sleep disorder characterized by inverted circadian rhythm of melatonin secretion. Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable with advancing age. Infants are described as looking "cherubic" with a Down syndrome-like appearance, whereas with age the facial appearance is that of relative prognathism. Early diagnosis requires awareness of the often subtle clinical and neurobehavioral phenotype of the infant period. Speech delay with or without hearing loss is common. Most children are diagnosed in mid-childhood when the features of the disorder are most recognizable and striking. While improvements in cytogenetic analysis help to bring cases to clinical recognition at an earlier age, this review seeks to increase clinical awareness about Smith-Magenis syndrome by presenting the salient features observed at different ages including descriptions of the neurologic and behavioral features. Detailed review of the circadian rhythm disturbance unique to Smith-Magenis syndrome is presented. Suggestions for management of the behavioral and sleep difficulties are discussed in the context of the authors' personal experience in the setting of an ongoing Smith-Magenis syndrome natural history study.
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PMID:Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). 1664 92


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