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Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria
- Authors:
- SHAW-SMITH C., et al
- Journal article citation:
- Child: Care, Health and Development, 30(5), September 2004, pp.551-555.
- Publisher:
- Wiley
Universal screening introduced in the 1960s has reduced the incidence of learning disability resulting from phenylketonuria (PKU), which is a treatable condition. Nonetheless, PKU may still be having an impact on the paediatric-age population. The authors report a woman with previously undiagnosed PKU who was born before the onset of universal screening. She is of normal intelligence, and so the diagnosis was not suspected until after the birth of her three children. Her serum phenylalanine concentration was found to be in excess of 1 mmol/L, well into the toxic range. She has had three sons, all of whom have a significant degree of learning disability resulting from intrauterine exposure to toxic levels of phenylalanine. None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis. We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.
Annual health reviews for patients with severe learning disabilities: five years of a combined GP/CLDN clinic
- Author:
- MARTIN Graham
- Journal article citation:
- Journal of Learning Disabilities, 7(1), March 2003, pp.9-21.
- Publisher:
- Sage
From 1997 to 2001 inclusive, annual health checks were offered to patients on the learning disabilities register of a general practice with a total of 14,410 patients. An average of 56 patients were invited each year and the attendance rate was 77.5 percent. The structured health check was administered by the community learning disability team (CLDT) nurse and general practitioner (GP) working together. The intervention rate was 1.56 per patient per year. This included referrals within the CLDT and to other professionals. Over half of all interventions (0.84 per patient per annum) were actioned within primary care. These included lifestyle advice leading to monitoring of obesity; ear and eye checks leading to referral or treatment; review of associated locomotor, hormone, skin, digestive system and CNS conditions resulting in medication changes; and blood tests. The health check highlighted continuing treatable conditions which otherwise might not have received attention.
A validity study of the Screening Tool of Feeding Problems (STEP)
- Authors:
- KUHN David E., MATSON Johnny L.
- Journal article citation:
- Journal of Intellectual and Developmental Disability, 27(3), September 2002, pp.161-167.
- Publisher:
- Taylor and Francis
The Screening Tool of Feeding Problems (STEP) was developed as a means to identify feeding problems presented by persons with an intellectual disability, for diagnosis, treatment and evaluating treatment outcome. Rarely is assessment comprehensive and often problems are not identified until they are severe. Items for the scale were developed to target feeding problems identified in the literature in the areas of risk of aspiration, food selectivity, feeding skills deficits, food refusal and associated behaviour problems, and nutrition related behavior problems. The current study examines the validity of the STEP as a means to identify feeding problems.
Responses to women with learning disabilities as they go through the menopause
- Author:
- McCARTHY Michelle
- Journal article citation:
- Tizard Learning Disability Review, 7(1), January 2002, pp.4-12.
- Publisher:
- Emerald
The research investigated how women with learning disabilities understand and experience the menopause, and the support available. This paper reports the experiences and attitudes of those people to whom women with learning disabilities might turn for support. GPs generally reported re;actively little experience in treating women with learning disabilities for menopause-related symptoms and some recognised the need for pro-active work. Carers played a key role on facilitating women' s access to primary health care. Staff in residential and day services recognised the role they played in supporting women through the menopause, but were hampered by lack of time and resources. Mothers of middle-aged women with learning disabilities and viewed this transition positively. The need for specialist educational materials was emphasised by all who took in this research.
Trends in the need for services for people with learning disabilities: implications for primary care
- Authors:
- LAWRENSON Ross, et al
- Journal article citation:
- Health Trends, 29(2), 1997, pp.37-41.
- Publisher:
- Office for National Statistics
Describes an observational study of register of people with learning disabilities from the City of Westminster and the Royal Borough of Kensington and Chelsea between 1983 and 1995. Reports on findings.
Evaluation of brief group-administered instruction for parents to prevent or minimize sleep problems in young children with Down Syndrome
- Authors:
- STORES Gregory, STORES Rebecca
- Journal article citation:
- Journal of Applied Research in Intellectual Disabilities, 17(1), June 2004, pp.61-70.
- Publisher:
- Wiley
The study concerns the unknown value of group instruction for mothers of young children with Down syndrome (DS) in preventing or minimizing sleep problems. Children with DS were randomly allocated to an Instruction group (given basic information about children's sleep) and a Control group for later comparison including objective sleep measures (actometry). As a secondary exercise, parental reports of sleep problems and objective sleep measures were compared in children with DS and a small sample of unimpaired children (U group) of comparable age and sex distribution. Instruction (shown to have improved mothers' knowledge) was associated with improvement in behavioural sleep problem ratings at 6-month follow up with no change in sleep-related breathing problem ratings or actometry findings. Sleep-related breathing problem symptoms and actometry abnormalities were significantly more common in the DS group than in the U group at baseline, with no obvious differences for behavioural sleep problems. Group instruction offers some benefit regarding behavioural sleep problems but not for sleep-related breathing problems to which more attention should be paid in children with DS, with a view to precise diagnosis and treatment.
Physical health of adults with intellectual disabilities
- Editors:
- PRASHER Vee, JANICKI Matthew
- Publisher:
- Blackwell
- Publication year:
- 2002
- Pagination:
- 286p.,bibliogs.
- Place of publication:
- Oxford
In common with the rest of the population, people with intellectual disabilities are experiencing increased longevity. Evidence suggests that mental health disorders may occur in up to half of all persons with intellectual disability and that these disorders accelerate significantly with age. Part one: prevalence and diagnosis; part two: treatments and interventions.