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Biomedical subjects

L Rosenbloom

Publications and source records attributed to L Rosenbloom.

At least 19 recordsLinked to original sources
PubMed1998

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

A whole X chromosome study of families in which Rett syndrome had been diagnosed in more than one member indicated that the region between Xq27 and Xqter was the most likely region to harbour a gene which may be involved in the aetiology of the disease. Further, more detailed studies of Xq28 detected weak linkage and a higher than expected sharing of maternally inherited alleles. It is suggested that there may be more than one gene involved in the aetiology of this syndrome, particularly as the very rare families in which more than one girl is affected often show variable clinical symptoms.

Alleles↗
PubMed1997

Autosomal dominant inheritance of Weaver syndrome.

Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.

Abnormalities, Multiple↗
PubMed1996

A randomized controlled trial of early physiotherapy for high-risk infants.

The aim of this study was to investigate the hypothesis that infants at high risk of cerebral palsy would benefit from early physiotherapy. In total, 105 infants with abnormal cranial ultrasound scans were randomized at around term to early physiotherapy or standard treatment (delaying physiotherapy until abnormal physical signs became apparent). At 12 and 30 months there were clinical and objective assessments. Nine infants died and nine were lost to follow-up by 12 months when 87 infants were assessed. One other child had died and three others were lost to follow-up by 30 months when 83 children were assessed. Cerebral palsy was only accurately predicted in 45 (54%) infants. There was no difference in outcome. The difficulty of predicting cerebral palsy reliably and the heterogeneity of the condition should be borne in mind when planning treatment and assessing its efficacy.

Cerebral Palsy↗
PubMed1994

Dyskinetic cerebral palsy and birth asphyxia.

Of 115 children with dyskinetic cerebral palsy (CP) in the Mersey region, 17 were born at term and at an appropriate weight for age, and have preserved cognitive abilities. 10 of these are likely to have sustained intrapartum asphyxial brain-damage as the cause of their CP. In such circumstances, a characteristic pattern is usually seen of severe fetal distress occurring late in labour, severe but short-lived birth asphyxia and only mild or moderate hypoxic-ischaemic encephalopathy. This clinical picture should be distinguished from the pattern of birth asphyxia which precedes the development of spastic quadriplegic CP.

Apgar Score↗
PubMed1994

Osteopenia in cerebral palsy.

The bone mineral density of the lumbar spine was assessed in nine non-ambulant children with cerebral palsy combined with measurements of serum 25-hydroxyvitamin D, parathyroid hormone, and urinary calcium excretion. Three children with recurrent fractures received treatment with bisphosphonates for periods ranging from 12-18 months. All the children demonstrated a severe reduction in bone mineral density even when allowance was made for their body weight. There were no consistent abnormalities of vitamin D or parathyroid hormone status. Three children had gross hypercalciuria. Each of the children treated with bisphosphonates demonstrated an increment in bone density ranging from 20-40% with no apparent adverse effects.

25-Hydroxyvitamin D 2↗
PubMed1994

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

The mitochondrial DNA (mtDNA) mutation 8993 is an important cause of Leigh's encephalopathy. A family is reported where other affected members have presented with non-specific delayed development or cerebral palsy. The diagnosis should be considered not only in children with Leigh's encephalopathy, but also in those with mild neurological dysfunction (including cerebral palsy) if there is a pigmentary retinopathy or a family history of neurological or ophthalmological disease. There was some correlation in this family between the disease severity and the proportion of mutant mtDNA in the blood. This mutation appears to segregate to high levels of mutant mtDNA rapidly within pedigrees and the mother of a severely affected child has a high risk of having further children with a high proportion of mutant mtDNA and a severe phenotype.

Adolescent↗
PubMed1993

A comparison of three procedures to assess the motor ability of 12-month-old infants with cerebral palsy.

This study compared three methods of assessing motor impairment during infancy. The 77 infants studied were considered to be at high risk of motor impairment because of abnormal neonatal cranial ultrasound scans or abnormal somatosensory responses. The children were assessed at eight and 12 months post-term by the Movement Assessment of Infants, the Griffiths locomotor development quotient and the limb-by-limb approach, and the results were compared with clinical assessment at 12 months post-term. The sensitivity of the limb-by-limb approach was highest, although its specificity was slightly lower than the other tests. It was also the easiest to perform. While giving information about the quality of movement, none of these methods is a quantitative test of movement.

Cerebral Palsy↗
PubMed1992

Rehabilitation and outcome after severe head injury.

After severe head injury, many children continue to experience major cognitive and behavioural problems and consequent educational difficulties, even after good physical recovery. Forty three children referred to the regional multidisciplinary head injury rehabilitation team are described. The clinical outcome at a median interval of 13 months after injury showed that 18 (42%) had persistent neurological impairment and 15 (35%) had an identified need for special educational support. Thirty seven children were further assessed for psychiatric morbidity, cognitive impairment, and classroom performance. Rutter behavioural questionnaires were sent to parents and teachers of head injured index cases and classmate controls matched for age and sex. Index parents scored their children significantly worse in both 'health' and 'habits' and more cases than controls had scores suggesting a psychiatric disorder. Teachers scored index cases significantly worse for five of the traits questioned, but discriminated cases from controls less decisively than parents. Index cases were significantly disadvantaged on teachers' assessments of classroom skills and performance. A need for improved support and training of staff who teach head injured children was identified.

Adolescent↗
PubMed1991

Wrongful birth.

In the U.K. there has been a considerable increase in medical negligence litigation. Children born with congenital abnormalities cannot sue for having been allowed to be born but their parents can claim for the costs of their care if they can prove that appropriate care would have led to a termination of pregnancy. Six children who are the subject of such proceedings are described and the alleged faults that led to their neural tube defects not being recognised are detailed. General recommendations for a consistent antenatal approach to the diagnosis and management of neural tube defects are suggested.

Female↗
PubMed1990

Birthweight specific trends in cerebral palsy.

A register of infants with cerebral palsy born to mothers resident in the Mersey region from 1967-84 has been maintained using various sources of information. A total of 1056 patients are registered of whom 331 (31%) have hemiplegia or mixed hemiplegia, 236 (22%) have diplegias or mixed diplegia, and 369 (35%) have quadriplegia or mixed quadriplegia. The remainder have dyskinetic or dystonic forms except for seven, who are unclassified. There has been no significant change in the prevalence of cerebral palsy among infants of normal birth weight (greater than 2500 g). Among low birthweight infants (less than or equal to 2500 g) there has been a significant increase in prevalence of all the main clinical types. This increase started later among the very low birthweight infants (less than or equal to 1500 g) than among those weighing 1501-2500 g. These changes in prevalence could be the result of either improved survival of prenatally impaired infants because of improvements in medical care, or a reflection of failure to maintain optimal conditions at or around the time of birth.

Birth Weight↗
PubMed1988

Cerebral palsy in low-birthweight infants. I. Spastic hemiplegia: associations with intrapartum stress.

Children with and without spastic hemiplegia were identified among a representative sample of 1048 low-birthweight survivors by clinical assessment after three years of age. The hypothesis that hemiplegia was predetermined at birth was tested by estimating the probability of hemiplegia for each infant by logistic regression analysis, using data from hospital records on conditions known at the time of birth. 16 of 42 children with cerebral palsy had spastic hemiplegia. Allowing for the lower birthweights of hemiplegic children, increased prevalence was associated with previous reproductive loss, breech vaginal delivery, later birth-order, prolonged second stage of delivery, emergency caesarean section, and low Apgar scores. These variables identified correctly most children as having a higher or lower estimated probability of hemiplegia. Hemiplegia was also associated with prolonged respiratory disease and intraventricular haemorrhage. In this population it is likely that intrapartum events were closely related to the pathogenesis of hemiplegia; their effects may have been mediated by postnatal events.

Cerebral Palsy↗
PubMed1988

Cerebral palsy in low-birthweight infants. II. Spastic diplegia: associations with fetal immaturity.

Twenty children with spastic diplegia were identified by clinical assessment among a representative cohort of 1048 survivors with a birthweight of 2000g or less. Data from hospital case-records were used to investigate which perinatal conditions might differentiate infants with diplegia from other low-birthweight survivors. Even allowing for a strong association with lower gestational age, diplegic children were more likely to have suffered respiratory disease, necrotising enterocolitis and fits in the neonatal period, than children without cerebral palsy. Among preterm infants, diplegia differed from hemiplegia mainly in a lack of significant association with recorded maternal characteristics and markers of intrapartum stress. Important determinants of diplegia were not identified, but the results suggest that infants born both immature and relatively immature for their gestational age have the highest risk of diplegia. Factors that influence the rate of fetal development may be implicated in the aetiology of diplegia in both preterm and fullterm infants.

Cerebral Palsy↗