Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty infants, diagnosed by cranial ultrasound as having extensive cystic leukomalacia, had visual evoked responses (VER) and electroencephalograms (EEG) in the neonatal period and MRI scans later in infancy. The early ultrasound findings and results from the electrophysiological tests were correlated with later MRI findings and functional abilities. In infants with periventricular leukomalacia (PVL), the cysts were usually no longer visible by ultrasonography, beyond 40 weeks postmenstrual age (PMA), but later MRI scans showed a consistent pattern of delayed myelination around the irregularly dilated occipital horns of the lateral ventricles. VER's were present in the neonatal period and vision was maintained, although all infants developed a marked squint. EEG's were either normal or abnormal initially, but improvement was noted within several weeks. In those with subcortical or mixed lesions, cysts were noted to persist beyond 40 weeks PMA. Later MRI scans showed very poor myelination, with poor progress on subsequent scans and cortical atrophy. VER's were absent and all infants later became cortically blind. EEG's were severely abnormal and recovery was very poor. The infants with PVL developed spastic diplegia with moderate developmental delay, while those with mixed or subcortical lesions developed quadriplegia with severe mental retardation. An integrated approach, consisting of ultrasound imaging and electrophysiological recordings in the neonatal period and MRI imaging later in infancy, may provide a more reliable prediction of the pattern of later deficits.
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PMID:Neurological, electrophysiological and MRI abnormalities in infants with extensive cystic leukomalacia. 360 Sep 97

Neurological prospective follow-up study of premature newborns must be carried out to determine the usefulness and efficacy of modern perinatal intensive care. Over the last 30 years an improvement in perinatal care has led to a dramatic reduction from 70% to 20%-40% in mortality rate among VLBW infants (less than or equal to 1500 g); while among those weighing less than or equal to 1000 g the mortality rate has dropped below 60% in some intensive care units. The concentration of high-risk pregnancies and deliveries in the same hospital in which the premature is cared for has led to a further reduction in the neonatal mortality rate. Most, though not all, foreign research reports a lower handicap rate than prior to the era of newborn intensive care. Studies from newborn intensive care units show considerable variation in the rates of handicaps among surviving LBW infants. Studies carried out at the same time in intensive care units and in routine care units reveal a higher or equal handicap percentage among those from intensive care units. It should be however remembered that the sometimes higher handicap rate is linked to a considerably increased survival rate and the gain in healthy lives saved is considerable. A recent comparison made in various european, american and australian centres reveals an average of 7% of cerebral palsy and 15% of mental retardation among VLBW (less than or equal to 1500 g) infants. In recent years there has been a dual tendency towards a stabilisation in the frequency of handicaps and a reduction in the gravity of the worst handicaps. Over the last 10 years there has been a renewed increase in retrolental fibroplasia: as much as 5-11% in VLBW infants less than or equal to 1000 g. Squint is the other most frequent visual defect. Hearing defects vary from 1,8% to 15%. Posthemorrhagic Hydrocephalus which takes place either early or later in the neonatal period is the most frequent complication of intraventricular haemorrhages and the prognosis depends on the gravity of the haemorrhage. Epilepsy is rare; spastic diplegia, now almost always accompanied by normal intellectual development, though considerably less frequent than in the past, is still the most frequent form of cerebral palsy. Serious mental retardation is present only among one third-one quarter of major handicaps.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Neuropsychic follow-up of the premature infant: mortality, severe sequelae, early diagnosis and prognosis]. 676 28

Congenital hypothyroidism (CH) is the commonest treatable cause of mental retardation. The prevelance is 1/3000 - 1/4000 live births worldwide. The importance of CH is that, the longer the diagnosis of CH is delayed, the higher the risk of mental retardation and neurologic sequale; such as poor motor coordination, ataxia, spastic diplegia, muscular hypotonia, strabismus, learning disability and diminished attention span. The most common cause of permenant CH is thyroid dysgenesis (85-90%) in which the transcription factors TTF1,TTF2 and PAX8 would appear to be obvious candidate genes in the aetiology. Especially cardiac defects and some other birth defects are described in patients with CH. Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, consistent with a single gene mutation. Transient CH is very common in prematures with an estimate of 10% of CH babies identified on newborn screening, or 1 in 40,000 neonates. CH neonates are usually symptom-free and the most encountered symptoms are prolonged jaundice, large fontanelles and umbilical hernia. In general, the extent of clinical findings depends on the cause, severity and duration of hypothyroidism. An elevated TSH>20 microm Iu/L and a decreased concentration of T4 confirms the diagnosis of CH. Infants with permanant abnormalities of thyroid function mostly have a serum TSH concentration > 50 microm Iu/L. Ultrasonography, thyroid scintigraphy, bone x ray of the knee and serum thyroglobulin concentration are the other essentials after diagnosis to clarify the status of the thyroid and the severity of hypothyroidism. The higher doses of 10- 15 microm g/kg/day and the commencement of treatment before 2 weeks gave rise to better long term outcome of CH patients. In the follow up of the patients noncompliance is the most important problem and serum freeT4 or T4 and TSH should be obtained at each visit to adjust the doses of L-thyroxine. Still a small number of patients with severe hypothyroidism in utero or reflected by clinical signs and symptoms extremely low T4 levels and delayed bone age may have intellectual deficits despite normal intelligence.
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PMID:Congenital hypothyroidism clinical aspects and late consequences. 1644 57

Although relations between the extent of periventricular leukomalacia and neuropsychological performance in preterm children with spastic diplegia have been extensively investigated, studies on term children with spastic diplegia are rare. The authors examined 15 preterm children and 9 term children with spastic diplegia, all of whom had periventricular leukomalacia as a main magnetic resonance imaging (MRI) finding (excluding full-term spastic diplegic children with other MRI findings). Cognitive abilities (Griffith scale) and visuoperceptual abilities (Developmental Test of Visual Perception) were compared in the 2 groups and related to periventricular leukomalacia severity. Cognitive performance was substantially similar in the 2 groups. However, the overall Developmental Test of Visual Perception scores were below normal in the preterm and were normal in the term children; furthermore, visuoperceptual abilities were differentially affected in the preterm children, with visuomotor abilities more compromised than nonmotor visuoperceptual abilities. These children had similar cognitive performance and MRI findings, so the greater visuoperceptual compromise in the preterm group suggests a direct influence of prematurity, which may have adversely influenced the reorganization of visual centers and pathways following the initial developmental insult. The strabismus present in most preterm children would also have contributed to their greater visuoperceptual compromise. The authors conclude that the management of preterm and term children should differ, with concentration on visuoperceptual skills and rehabilitation in the former.
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PMID:Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia. 1762 97

Iodine nutrition status amongst neonates can be assessed by estimating thyroid stimulating hormone (TSH). According to WHO, if more than 3 % of the neonates have TSH levels of 5 mlU/l and more in a population, it indicates presence of iodine deficiency (ID). Iodine deficiency is an endemic health problem in Solan district, Himachal Pradesh (HP) state. ID leads to mental retardation, deaf mutism, squint, dwarfism, spastic diplegia, neurological defects and congenital anomalies. The aim is to determine iodine nutrition status of neonates of Solan district. In Solan district, six hospitals/community health centers providing obstetric services and conducting more than 100 deliveries per annum were identified and enlisted. Two hospitals were selected keeping in view of operational feasibility. A total of 683 umbilical cord blood samples of neonates were collected on filter paper and analyzed for TSH. It was found that 63.2 % of the neonates had TSH levels of more than 5 mlU/l indicating iodine deficiency in the Solan district. Iodine deficiency was a public health problem in Solan district, HP.
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PMID:Iodine nutritional status among neonates in the Solan district, Himachal Pradesh, India. 2456 4

Iodine deficiency (ID) is an endemic health problem in Kangra district, Himachal Pradesh (HP) state. ID leads to mental retardation, deaf mutism, squint, dwarfism, spastic diplegia, neurological defects and congenital anomalies. Iodine nutrition status amongst neonates can be assessed by estimating thyroid stimulating hormone (TSH). The present study was conducted with an objective to assess the iodine nutrition status amongst Neonates in Kangra district, HP. All of the hospitals in the district which provide obstetric services were enlisted, of which three were selected for this survey. A total of 613 umbilical cord blood samples of neonates were collected on filter paper and analyzed for TSH. WHO (2007) reported that that a <3% frequency of TSH concentrations above 5 mIU/L in samples collected 3-4 days after birth indicates iodine sufficiency in a population. In our study we found that 73.4% of the neonates had TSH levels of more than 5 mlU/l, thus indicating ID in the population studied. Iodine deficiency continues to be a public health problem in Kangra district, Himachal Pradesh.
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PMID:Iodine nutrition status amongst neonates in Kangra district, Himachal Pradesh. 2479 42

Cerebral palsy (CP) is the most common physical disability in children. Orthoptists and ophthalmologists who care for children with CP know that strabismus is a common feature. This paper reviews the literature on strabismus in patients with CP, and then provides summary data and recommendations for management of these patients. The incidence of strabismus in patients with CP, especially in patients with spastic diplegia, is much higher than in neurologically normal children. Esotropia is the most common ocular misalignment. CP patients with strabismus benefit from nonsurgical treatment and should be treated promptly. Strabismus surgery should be considered in CP patients for psychosocial reasons as well as for potential successful ocular realignment and restoration of binocular vision. The literature is lacking in a long-term natural history study, prospective strabismus surgery studies, and long-term outcome studies of strabismus management in patients with CP.
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PMID:Strabismus in cerebral palsy: when and why to operate. 2531 6

The catenin beta-1 (CTNNB1) gene, encoding a sub-unit of the cadherin/catenin protein complex that is involved in the Wnt signalling pathway important for proper interneuron development, is considered to be causative for the rare autosomal dominant mental retardation syndrome, formerly called MRD19 but later renamed neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Its main characteristics are moderate to severe intellectual disability (ID), disruptive autistic behaviours, microcephaly, absent or limited speech, facial dysmorphisms, peripheral hypertonia/spasticity, motor delay and visual defects. So far, 35 patients have been reported with a de novo loss-of-function variant in CTNNB1. In two other patients, a deletion comprising the full gene was found. Four out of the 37 patients were of adult age (range: 27-51 years), while the majority was infant or adolescent (range: 0-20 years). Here, a 32-year-old severely intellectually disabled female patient is described in whom exome sequencing disclosed a de novo heterozygous splice site variant in the CTNNB1 gene [Chr3(GRCh37): g.41267064G>T; NM_001904.3: 23. c.734+1G>T; r. spl?]. Somatic investigation disclosed significant microcephaly and minor facial dysmorphisms. Neurological examination demonstrated severe kyphoscoliosis, distal spastic tetraparesis, especially of the legs with increased tendon reflexes and bilateral Babinski sign, resulting in severely impaired walking capability with a broad-based gait. Apart from strabismus, no ophthalmological abnormalities were found. Here, the reported variant in the CTNNB1 gene was not published earlier nor is included in the international databases. This specific variant is considered to be causative for the severe ID, autism and the somato-neurological phenotype of the patient and corresponds with a diagnosis of NEDSDV.
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PMID:A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability. 3311 39