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PURPOSE: The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability. METHODS: Caregivers of 447 children with an intellectual disability reported their child's day-to-day functioning, their own psychological distress using the Kessler Psychological Distress Scale, and the Quality of Life Inventory-Disability (QI-Disability), a measure of QOL for proxy report of a child's observable behaviours that indicate quality of life. Linear regression was used to assess the effects of the child's functional abilities on their QI-Disability score and causal mediation analysis to estimate the extent to which these effects were mediated by caregivers' psychological distress. RESULTS: A minority of caregivers (n = 121, 27.1%) reported no psychological distress. Lower day-to-day functional abilities, such as being fully dependent on others to manage their personal needs were associated with lower total QOL scores. There was no significant mediation effect of caregiver psychological distress on the association between child functioning and total QOL scores. Moderation analyses revealed small and largely nonsignificant interaction coefficients, indicating that caregiver psychological distress did not influence the strength of the relationship between child functioning and total QOL scores. CONCLUSION: Caregiver psychological distress did not mediate or moderate the relationship between the level of functional abilities and QOL in children with intellectual disability. QI-Disability measured observable child behaviours which may reduce the influence of caregiver factors on the accurate measure of QOL for children with intellectual disability.

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BACKGROUND: Mothers of children with a disability are at increased risk of poor mental health compared with mothers of typically developing children. The aim of the study was to describe the mental health care needs and preferences for support of mothers of children and young people aged 0-25 years with a disability. METHODS: A cross-sectional study was used, using an online survey with 294 mothers of children with a disability. Questions were asked about mental health, perceived need for support, barriers to accessing mental health care, and preferences for support. Descriptive and chi-squared analyses were performed. RESULTS: High rates of mental ill health were self-identified in the previous 12 months, with reported clinically significant depression (44%), anxiety (42%), and suicidality (22%). Nearly half (48%) of the mothers reported high to very high psychological distress. Although 75% of mothers perceived a need for professional support, only 58% attempted to access this. Key barriers to accessing support were caregiving duties making it difficult to schedule appointments (45%) and not perceiving the mental health problem as serious enough to require help (36%). Individual counselling was the preferred type of support (66%) followed by professionally guided relaxation (49%) and education about mental health (47%). Support was considered most critical at the time of diagnosis and during medical intervention for their child. CONCLUSIONS: Although mental health problems were common and mothers perceived the need for professional help, several key barriers were preventing mothers from accessing help. Our study suggests that improving mothers' knowledge of when and where to seek help (mental health literacy) may encourage their access to support. There also needs to be more accessible treatment to mothers given the high care demands that are placed upon them.

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BACKGROUND: Although it is estimated that half of all children with cerebral palsy also have comorbid intellectual disability, the domains of quality of life (QOL) important for these children are not well understood. The aim of this study was to identify important domains of QOL for these children and adolescents. METHODS: Due to the children's communication impairments, qualitative semi-structured interviews were conducted with 18 parents. The children (9 males) had a median age of 12 (range 7 to 17) years at interview and nearly two thirds were classified as Gross Motor Function Classification System IV or V. A grounded theory approach was used to identify domains of QOL. RESULTS: The 11 domains identified as important to QOL were physical health, body comfort, behaviour and emotion, communication, predictability and routine, movement and physical activity, nature and outdoors, variety of activity, independence and autonomy, social connectedness, and access to services. CONCLUSIONS: The domains of QOL that emerged from this study will be useful for professionals who support children with cerebral palsy and their families. They will also be important for developing a QOL instrument essential for informing the development of interventions and their monitoring and evaluation.

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BACKGROUND: Individuals with intellectual disabilities are at increased risk of becoming overweight or obese. This is particularly evident in people with trisomy 21 and Prader-Willi syndrome (PWS). Although metabolic factors are known to contribute to obesity in trisomy 21 and hyperphagia plays a primary role in PWS, hyperphagia has not yet been investigated as a possible contributing factor to obesity in trisomy 21. METHODS: Participants comprised three diagnostic groups: trisomy 21 (T21 group), PWS (PWS group) and lifestyle-related obesity (LRO group). They were required to be aged 6-18 years and have a body mass index over the 85th percentile for age and gender. A parent of each participant completed the Hyperphagia Questionnaire and the Children's Leisure Activity Study Survey. Mean scores for each domain and across all domains of the Hyperphagia Questionnaire and the Children's Leisure Activity Study Survey were compared between diagnostic groups using linear regression analysis. RESULTS: The study group consisted of 52 young people (23 men and 29 women) aged 6-18 years (mean 12.5 years; T21 group n = 17, PWS group n = 16 and LRO group n = 19). As hypothesised, the PWS group had the highest mean scores across all domains of the Hyperphagia Questionnaire, and the LRO group had the lowest. Food-seeking behaviour was more pronounced in the PWS group than the T21 group (mean score 13.2 vs. 8.6, p = 0.008). The LRO group spent more hours per week engaged in physical activity (14.7) in comparison with the other groups (9.6 and 9.7), whereas between the groups, differences in time spent in sedentary activities were less pronounced. CONCLUSIONS: Preoccupation with food and low levels of physical activity may contribute to the development of overweight and obesity in some individuals with trisomy 21. These factors warrant consideration in the clinical context.

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BACKGROUND: Many previous studies that have investigated hospital admissions in children and young people with cerebral palsy lack information on cerebral palsy severity and complexity. Consequently, little is known about factors associated with the frequency and type of hospital admissions in this population. This study used hospital admission data available for all children and young people known to a population-based cerebral palsy register to describe the patterns of use of tertiary paediatric hospital services over a 5-year period. METHODS: This was a retrospective cohort analysis of routinely collected admission data from the two tertiary paediatric hospitals in the Australian state of Victoria. Data on admissions of individuals born between 1993 and 2008 registered on the Victorian Cerebral Palsy Register were analysed (n = 2183). RESULTS: Between 2008 and 2012, 53% of the cohort (n = 1160) had at least one same-day admission, and 46% (n = 996) had one or more multi-day admissions. Those with a moderate to severe motor impairment and those with a co-diagnosis of epilepsy had more admissions, and for multi-day admissions, longer lengths of stay, P < 0.05. Across all severity levels, respiratory and musculoskeletal diseases were the most frequently reported reasons for medical and surgical admissions, respectively. All-cause readmission rates for urgent multi-day stays within 7, 30 and 365 days of an index admission were 10%, 23% and 63%, respectively. CONCLUSIONS: The reasons for hospital admissions reported here reflect the range of comorbidities experienced by children and young people with cerebral palsy. This study highlights priority areas for prevention, early diagnosis and medical management in this group. Improved primary and secondary prevention measures may decrease non-elective hospital admissions and readmissions in this group and reduce paediatric inpatient resource use and healthcare expenditure attributable to cerebral palsy.

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Many individuals with neurological problems or anatomical abnormalities of the jaw, lips or oral cavity may drool, which can impact on health and quality of life. A thorough evaluation of the patient's history, examination of the oral region by a speech pathologist and, in individuals over 3 years, a dental examination is warranted. Questionnaires with established validity such as the Drooling Impact Scale are useful assessment tools. A hierarchical approach to treatment is taken from least invasive therapies, such as speech pathology, to more invasive, such as injection of botulinum neurotoxin type-A (BoNT-A) into the salivary glands (parotid and submandibular). The wishes of the individual and their carer are crucial considerations in determining the suitability of the intervention for the patient. In the presence of dysphagia and cerebral palsy (CP), careful assessment is required prior to the injection of BoNT-A. Favourable responses to intervention include a reduction in the secretion of saliva and in drooling, as well as psychosocial improvements. BoNT-A is usually well tolerated, although potential side effects should be discussed with the patient and carer.

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BACKGROUND: Although it is expected that caring for a child with cerebral palsy (CP) can impact on the quality of life (QOL) of caregivers, the QOL of carers' has yet to be adequately examined. The aims of this study are to: (1) explore the QOL of mothers and fathers of children with CP aged 3-18 years; and (2) examine whether the impact of caring for a child with CP changes from childhood to adolescence. METHOD: A qualitative study was conducted utilizing a grounded theory framework. Twenty-four mothers and 13 fathers of children and adolescents with CP aged 3-7 years (n = 15), 8-12 years (n = 10) and 13-18 years (n = 12) and with varying levels of impairment (GMFCS Level I = 1, II = 4, II = 3, IV = 5, V = 12) participated in semi-structured interviews about their QOL. The transcripts were analysed to identify issues affecting parental QOL. RESULTS: There were no differences in parental QOL among subgroups (i.e. mothers and fathers, age groups, GMFCS levels). Parental QOL ranged across a wide spectrum. Caring for a child with CP affects a parent's physical well-being, social well-being, freedom and independence, family well-being and financial stability. Parents indicated that they often feel unsupported by the services they access. CONCLUSIONS: Caring for a child with CP can both positively and negatively impact on a parent's life. There is value for both parents and children if parental concerns and determinants of QOL are considered in overall programme planning and service delivery for children and their families.

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INTRODUCTION: There is debate about the type and intensity of early childhood intervention that is most helpful for children with developmental problems. The aim of the study was to determine whether a home-based programme provided over 12 months resulted in sustained improvement in development and behaviour 12 months after the intervention ceased. The characteristics of the children and families who benefited most from the intervention were also studied. METHOD: Randomized controlled trial. Participants A total of 59 children, aged 3-5 years, attending two early childhood intervention centres in Melbourne, Australia. Intervention Half of the subjects received an additional home-based programme consisting of 40 weekly visits. MAIN OUTCOME MEASURES: Bayley Scales of Infant Development and Wechsler Preschool and Primary Scale of Intelligence Revised, Preschool Behaviour Checklist, Bayley Behaviour Rating Scale and Behaviour Screening Questionnaire. All tests administered pre-intervention, following the intervention and 12 months later. Secondary outcome measures Family stress, support and empowerment. RESULTS: Fifty-four children completed the assessments 12 months after conclusion of the intervention. Compared with the control group, improvement in aspects of cognitive development in the children who received the extra intervention was sustained 1 year later (P= 0.007) while significant behavioural differences post intervention were not. Analyses of the data by the Reliable Change Index indicated improvement of clinical significance occurred in non-verbal areas. In contrast to the control group who deteriorated, language skills in the intervention group remained stable. Improvements were significantly associated with higher stress in the families. CONCLUSION: Improvements following the provision of a home-based programme to preschool children with developmental disabilities were sustained 1 year later. Children from highly stressed families appeared to benefit most, reinforcing the importance of involving families in early childhood intervention programmes.

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Given that quality of life (QOL) is commonly confused with functioning, the aim of this study was to examine the association between functioning and QOL domains for children with cerebral palsy (CP). Two hundred and five parents of children aged 4 to 12 years with CP and 53 children aged 9 to 12 years with CP, completed the Cerebral Palsy Quality of Life Questionnaire for Children. Children were distributed reasonably evenly between sex (male, 54.6%) and Gross Motor Function Classification System levels (I 17.8%, II 28.3%, III 14.1%, IV 11.2%, and V 27.3%). For parent proxy-report, all domains of QOL were significantly associated with functioning level except access to services. For child self-report, feelings about functioning, participation and physical health, and pain and feelings about disability, were significantly associated with functioning level. Physical type domains of QOL accounted for more of the variance in functioning than psychosocial type domains. Children with CP have the potential to report a high psychosocial QOL score even if they have poor functioning.

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The primary aim of this randomized, controlled trial was to assess the effectiveness of botulinum toxin A (BoNT-A) injections into the submandibular and parotid glands on drooling in children with cerebral palsy (CP) and other neurological disorders. Secondary aims were to ascertain the duration of any such effect and the timing of maximal response. Of the 48 participants (27 males, 21 females; mean age 11y 4mo [SD 3y 3mo], range 6-18y), 31 had a diagnosis of CP and 15 had a primary intellectual disability; 27 children were non-ambulant. Twenty-four children randomized to the treatment group received 25 units of BoNT-A into each parotid and submandibular gland. Those randomized to the control group received no treatment. The degree and impact of drooling was assessed by carers using the Drooling Impact Scale questionnaire at baseline and at monthly intervals up to 6 months postinjection/baseline, and again at 1 year. Maximal response was at 1 month at which time there was a highly significant difference in the mean scores between the groups. This difference remained statistically significant at 6 months. Four children failed to respond to the injections, four had mediocre results, and 16 had good results. While the use of BoNT-A can help to manage drooling in many children with neurological disorders, further research is needed to fully understand the range of responses.

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To study the agreement between three tests for aspiration, barium videofluoroscopy, salivagram, and milk scan we studied 63 children with severe non-ambulant spastic quadriplegic cerebral palsy (CP) aged 14 months to 16 years (32 males, 31 females). The salivagram was most frequently positive (56%, 95% confidence interval 43 to 68%); the next most frequently positive was barium videofluoroscopy when aspiration was defined as the presence of either laryngeal penetration of material or frank aspiration (39%, 95% confidence interval 26 to 53%). The milk scan was rarely positive (6%, 95% confidence interval 2 to 16%). Agreement between the tests of aspiration was poor. The maximum agreement (kappa=0.20) was between aspiration as diagnosed with the salivagram and by barium videofluoroscopy. Positive tests for aspiration are frequent in children with severe CP. Frequency varies widely depending on the investigation used. There is poor agreement between tests used for the diagnosis of aspiration. This information is of importance in assessing the significance of test results.

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BACKGROUND: Although there is increasing recognition that quality of life (QOL) and health-related quality of life (HRQOL) are important outcome variables in clinical trials for children with cerebral palsy, there are substantial limitations in existing measures of QOL. This study identify themes of QOL for children with cerebral palsy and their parents to guide the development of a new condition-specific QOL scale. METHODS: A qualitative study of parent and child views on QOL composition was conducted, using a grounded theory framework. Families participated in semistructured interviews on QOL until thematic saturation was reached (n = 28 families). RESULTS: Overall, 13 themes emerged from the interviews: physical health, body pain and discomfort, daily living tasks, participation in regular physical and social activities, emotional well-being and self-esteem, interaction with the community, communication, family health, supportive physical environment, future QOL, provision of, and access to services, financial stability, and social well-being. CONCLUSIONS: Research with parents and children with cerebral palsy, representative of severity across the disease spectrum and socio-economic status, reinforced and expanded on the traditional themes that have underpinned QOL measurement development. This has implications not only for the development of a new QOL scale for children with cerebral palsy, but also for clinical interventions and community care management.

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OBJECTIVES: Negative attitudes toward people with disabilities, including cerebral palsy, may be related to misunderstandings or lack of knowledge about the disability. If held by medical practitioners, they can have detrimental implications for the care of people with disabilities. The purposes of this study were to examine the knowledge and attitudes of medical students regarding cerebral palsy and to examine the effects of the videotape 'Understanding Cerebral Palsy' on these two areas. METHODS: The attitudes and knowledge regarding cerebral palsy of 54 medical students in their penultimate year were measured before and after watching a video produced to educate health professionals about cerebral palsy. They were assessed using a self-administered questionnaire constructed specifically for the study, adapted from previously validated questionnaires. RESULTS: These medical students generally had limited knowledge about cerebral palsy and displayed negative attitudes toward people with cerebral palsy. It was also found that males had less positive attitudes than females (P = 0.014) and that students educated mainly in Asia had less positive attitudes than students educated mainly in Australia (P = 0.012). The videotape was shown to be effective in improving the students' knowledge about cerebral palsy. A small but significant improvement in attitudes was also shown (P = 0.014), with the attitudes of some students improving dramatically. However, negative attitudes remained in many. CONCLUSIONS: Based on the findings, structured teaching about cerebral palsy is necessary within the medical curriculum at the University of Melbourne. Greater promotion of positive attitudes toward people with cerebral palsy and other disabilities is required.

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OBJECTIVE: To study the outcome of 21 typically developing children who had been referred to the Saliva Control Clinic at the Royal Children's Hospital, Melbourne. METHOD: Information was collected on various aspects of the child's health, oromotor function and severity of drooling. A follow-up telephone survey was completed by the parents of these children after a mean period of 3.4 years. Information was gathered regarding their child's drooling, current health, oromotor status and the usefulness of the clinic. RESULTS: There was a statistically significant improvement (P < 0.01) in the saliva control measures analysed on follow-up. Thirteen children ceased to drool, three still drooled occasionally, and five continued to drool. The recommendations, mainly advice and referrals to other health professionals, were generally reported to be helpful by the parents. CONCLUSIONS: This cohort of children was established retrospectively, and the study is therefore limited in both numbers and design. The results indicate that some typically developing children may be delayed in the development of saliva control. Parents and professionals can be reassured that this problem is likely to resolve.

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Within the cerebral palsy syndromes, athetosis is most commonly causally associated with serious perinatal complications. Genetic factors are thought to play a lesser role, although the risk of recurrence in siblings has been suggested to be as high as 10%. We have conducted a clinical study of 22 subjects with a diagnosis of athetoid cerebral palsy and a review of the literature aiming to identify instances of familial recurrence of athetoid cerebral palsy. The birth history, family history, and previous investigations of subjects with athetoid cerebral palsy were studied and subjects were clinically examined for evidence of an underlying genetic etiology. Factors suggesting a genetic cause were specifically sought, such as advanced paternal age, progression of symptoms, and associated congenital abnormalities. No subjects in the study group had similarly affected relatives, and additional features suggesting a genetic cause were not observed. A literature search identified 16 instances of familial recurrence of athetoid cerebral palsy. Familial cases were typically associated with significant spasticity, microcephaly, intellectual disability, seizures, and a lack of history of birth asphyxia, and most could be explained by either autosomal-recessive or X-linked-recessive inheritance. The genetic contribution to athetoid cerebral palsy is small, with an overall risk of recurrence in siblings of about 1%. This risk is lower than previously suggested in the literature.

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This study examines the reliability of the Melbourne Assessment of Unilateral Upper Limb Function: a quantitative test of quality of movement in children with neurological impairment. The assessment was administered to 20 children aged from 5 to 16 years (mean age 9 years 10 months, SD 2 years 10 months) who had various types and degrees of cerebral palsy (CP). The performances of the 20 children during assessment were videotaped for subsequent scoring by 15 occupational therapists. Scores were analyzed for internal consistency of test items, inter- and intrarater reliability of scorings of the same videotapes, and test-retest reliability using repeat videotaping. Results revealed very high internal consistency of test items (alpha=0.96), moderate to high agreement both within and between raters for all test items (intraclass correlations of at least 0.7) apart from item 16 (hand to mouth and down), and high interrater reliability (0.95) and intrarater reliability (0.97) for total test scores. Test-retest results revealed moderate to high intrarater reliability for item totals (mean of 0.83 and 0.79) for each rater and high reliability for test totals (0.98 and 0.97). These findings indicate that the Melbourne Assessment of Unilateral Upper Limb Function is a reliable tool for measuring the quality of unilateral upper-limb movement in children with CP.

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OBJECTIVE: To study the causes of death and the characteristics of children with cerebral palsy that had died over a 25-year period in Victoria, Australia. METHODOLOGY: Names of children that had died were collected from the Victorian Cerebral Palsy Register. Their hospital records were studied and information was gathered about age of death, motor impairment, the presence or absence of associated disabilities and cause of death. RESULTS: One hundred and fifty-five children had died during the period 1970-95. The majority of children had severe spastic quadriplegia, intellectual disability and epilepsy. The predominant cause of death was pneumonia, although for many children who died at home the cause was unknown. CONCLUSIONS: Children with cerebral palsy are a diverse group and those with a severe motor deficit have a reduced life expectancy. Lung disease remains an important cause of morbidity and mortality for this group. Further information about the causes of death is needed, particularly for those children that die at home.

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Two children with syntelencephaly presented with the predominant clinical picture of spastic diplegia. Brain scanning showed deficient formation of the interhemispheric fissure with fusion of occipital and parietal lobes, and an infolding and protrusion of occipital cortex into the telencephalic ventricle. The fusion extended further posteriorly than the cases of "middle interhemispheric fusion" thus far reported. One 7-year old has poor language development, while the other is regarded, at her present age of 3 years, as being cognitively within the normal range.

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Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.

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