Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

Aims: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). Methods: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. Results: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. Conclusions: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance.     

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study.

AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. RESULTS: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. CONCLUSIONS: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance.     

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

Prader‐Willi syndrome (PWS) is a rare genetic condition with multi‐system involvement. The literature was reviewed to describe neurodevelopment and the behavioural phenotype, endocrine and metabolic disorders and respiratory and sleep functioning. Implications for child and family quality of life were explored. Challenging behaviours contribute to poorer well‐being and quality of life for both the child and caregiver. Recent evidence indicates healthy outcomes of weight and height can be achieved with growth hormone therapy and dietary restriction and should be the current target for all individuals with PWS. Gaps in the literature included therapies to manage challenging behaviours, as well as understanding the effects of growth hormone on respiratory and sleep function. New knowledge regarding the transition of children and families from schooling and paediatric health services to employment, accommodation and adult health services is also needed. Developing a national population‐based registry could address these knowledge gaps and inform advocacy for support services that improve the well‐being of individuals with PWS and their families.     

Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30‐year period

Aim: The aim of this study was to present the natural clinical course in children and adolescents with MPS III diagnosed during a 30‐year period in Sweden. Methods: The patients were identified from metabolic laboratory records between 1975 and 2004. Patient data were assessed from interviews of parents and by clinical examination and records from the patients. Results: A total of 15 children, 68%, with MPS IIIA were diagnosed at a median age of 6.8 years (range 1.2–18.9 years). One boy had MPS IIIB and five children MPS IIIC, diagnosed at ages between 1.9 and 11.6 years. In one child the type was not determined. The median age of children with type IIIA who had deceased was 16.2 years (range 10.4–31.2 years). Ten individuals with MPS III are alive at ages between 5 and 29 years. In four families, two children were affected. Conclusion: In 22 Swedish children with Sanfilippo disease an early normal development followed by a delay in speech and an appearance of behaviour problems was found in most children during the early preschool period. Mental retardation was diagnosed in almost all individuals before starting school. Early diagnosis is important in this devastating, progressive disorder, not only for genetic counselling but also for participation in future treatments.     

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III)

Severe behavioural disturbance is a very common feature of Sanfilippo syndrome (mucopolysaccharidosis III, MPSIII), and one of the more difficult aspects of the disease to treat. We describe a series of six patients with MPS III who had cerebrospinal shunts inserted in an attempt to ameliorate behaviour that had proved refractory to conventional treatment. Symptoms improved significantly in all six but removal of the shunt was necessitated in one patient due to shunt blockage and infection. Conclusion Our experience suggests cerebrospinal fluid shunting should be formally evaluated as an adjunct to conventional forms of treatment of extreme behavioural disturbance in MPS III. Received: 14 October 1997 / Accepted: 25 February 1998     

The complexity of the psychosocial situation in children and adolescents with heart disease

AIM: To describe the psychosocial situation of children/adolescents with heart disease and their families, an inventory method was worked out. METHODS: Ninety-seven children/adolescents with congenital heart disease (CHD) were graded into three categories with respect to complexity of CHD. Group I included 42 patients with malformations requiring standardized operations. Group II included 20 patients with more complicated malformations, and group III included 35 patients with very complex malformations. The patients were compared with controls without heart disease, matched for age and gender. The psychosocial impact of CHD was measured by the inventory. RESULTS: The most frequent problems in the patient group were healthcare and treatment-related needs (71/97) in the external sphere, family symptoms (68/97) in the interpersonal sphere, and somatic symptoms (19/97) in the personal sphere. Corresponding numbers in the controls were treatment-related needs (15/97), family (9/97) and somatic symptoms (25/97). Fifty per cent of the symptoms in the patient groups were mild, 30% moderate and 20% severe. The most severe symptoms were found in the interpersonal sphere, where family symptoms constituted the most severe variable. The frequency of severe problems in the personal sphere was 11% in the patients and 1% in the controls. This inventory method differentiates the grades of medical complexity both regarding number and severity of psychosocial symptoms. It indicates severe personal problems in the most complex group and shows that they have severe personal problems independent of family problems. CONCLUSION: This study elucidates the psychosocial complexity in children/adolescents with CHD, which has clinical implications in developing a psychosocial care programme.     

Challenging neurological symptoms in paediatric palliative care: An approach to symptom evaluation and management in children with neurological impairment

Neurological symptoms are very common in children with life-limiting conditions and are challenging in terms of burden of illness. Moreover, neurological symptoms can significantly impact the child’s quality of life and contribute to distress among parents, families, caregivers and health care providers. Knowing how to manage and alleviated these symptoms is essential for providing good palliative care. In the present article, the more common neurological symptoms of agitation/irritability, spasticity and dystonia will be reviewed. The aim of the present brief review is to provide a basic approach to both the identification and treatment of these neurological symptoms. A medication table is provided for quick reference. A brief commentary and guidance for the management of pain are also incorporated, with reference to further literature sources.     

Sleep problems are associated with poor outcomes in remedial teaching programmes: a preliminary study

Aim:   Problematic behaviour and deficient academic performance have been reported in children with sleep problems, but whether sleep problems are common among children presenting with primary behavioural and performance concerns in remedial programmes is not well studied. We studied this possibility in 80 Australian school children aged 6–15 years and then compared 15 of these children from mainstream schools to 15 demographically matched children in specialist behavioural programmes for problematic behaviour and academic difficulties.
Methods:   Parents completed the Child Behaviour Checklist and the Sleep Disorders Scale for Children. Questionnaires assessed behaviour, academic performance and symptoms of diverse sleep disorders, expressed as T-scores (mean (SD) = 50 (10)). Teachers rated students' academic performance (A, B, C, D, E).
Results:   When compared with the 15 controls, the 15 index children had significantly more sleep problems, in addition to parental concerns about school performance. In the total sample ( n  = 80), poor sleep including symptoms of daytime sleepiness, parasomnias, behavioural sleep problems and combined sleep problems was associated with poor academic performance and daytime behavioural issues.
Conclusions:   This preliminary study suggests that children in remedial school programmes may have poor sleep compared with those in mainstream schools. Sleep problems were associated with problematic behaviour and poor academic performance. If sleep disturbances worsen daytime behaviour, then diagnosis and treatment of underlying sleep disorders could offer a novel therapeutic opportunity.     

Association of sleep duration with socio‐economic status and behavioural problems among schoolchildren

Aim: In this population‐based study, we aimed to determine the total sleep duration (TSD), its association with socio‐economic status (SES) and behavioural symptoms among schoolchildren. Methods: A cross‐sectional study was performed among schoolchildren in Istanbul. A structured questionnaire evaluating the sleep schedule variables was filled out by their parents. SES was determined according to the Turkish SES scale. Results:  The mean age of 2669 children was 8.2 ± 2.4 years, and 51% of the students were girls. The mean TSD was 10.20 ± 1.04, and the mean bedtime was 21.57 ± 0.56 (both in hours, minutes ± SD). Boys tended to go bed later (p = 0.004) and slept less than girls (p = 0.02). The duration of sleep disruptions increased (p < 0.001), whereas TSD decreased with age (p < 0.001). Multiple linear regression revealed that waking time and TSD decreased significantly (p < 0.05) with higher SES among both girls and boys. Sleep fragmentation was associated with habitual snoring, parasomnias, daytime sleepiness and conduct symptoms. Conclusion: Decreased total sleep duration is more prominent in boys, older children and children among higher socio‐economic status. Insufficient sleep attributed to shortened total sleep duration by age and higher socio‐economic status might have a negative effect on both sleep hygiene and psychological well‐being in schoolchildren.     

Parental depressive symptoms and children's sleep: the role of family conflict

Background: We used a multi‐method and multi‐informant design to identify developmental pathways through which parental depressive symptoms contribute to children’s sleep problems. Environmental factors including adult inter‐partner conflict and parent–child conflict were considered as process variables of this relation. Methods: An ethnically and socioeconomically diverse sample of children (n = 268) participated (M age = 9.44 years, SD = 8.61 months). Children wore actigraphs for 7 consecutive nights and also reported on their sleep problems. Results: Higher levels of maternal depressive symptoms were associated with children’s sleep/wake problems. Higher levels of paternal depressive symptoms were associated with shorter time in bed and fewer sleep minutes. Inter‐partner conflict and parent–child conflict were mechanisms of effects in the associations between maternal depressive symptoms and children’s actigraphy‐based and self‐reported sleep problems. Conclusions: Findings build on this scant literature and highlight the importance of identifying pathways of risk and familial and environmental influences on children’s sleep problems.     

A clinical study of 77 patients with mucopolysaccharidosis type II

AIM: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients. RESULTS: Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years. For the whole sample (median age, 8.2 years; range, 2.8-53.0 years), neurological degeneration, typical pebbly skin lesions, seizures and extensive dermal melanocytosis were found in 23.3, 13.0, 13.0 and 1.3% of the cases, respectively. The most frequently reported echocardiogram abnormality was mitral valve regurgitation. Refraction errors were the most common ophthalmological manifestation. The following characteristics were found to be associated with the severe form of MPS II: earlier age at biochemical diagnosis, higher levels of urinary glycosaminoglycans, language development delay, behavioural disturbances, poor school performance and mental retardation. CONCLUSION: Our results suggest that there is a considerable delay between the onset of signs and symptoms and the diagnosis of MPS II in Brazil (and probably in South America as well), and that many complications of this disease are underdiagnosed and undertreated. Therefore, the implementation of programmes aiming to increase the awareness of the disease, the availability of biochemical diagnostic tests and the provision of better support to affected patients is urgently needed.     

Sleep architecture in healthy 5-year-old preschool children: associations between sleep schedule and quality variables

Aim: Although disturbed sleep quality such as night awakenings and difficulties in falling asleep are common symptoms during sleep in preschool children, relationships between sleep quality and sleep schedule are mostly unknown. This study aimed to evaluate the relationships between sleep schedule and quality variables in preschool children. Methods: Sleep‐wake patterns of 48 healthy 5‐year‐old children were assessed over 7 consecutive days using actigraphy. Results: Children with longer sleep latency had a lower sleep quality, a later bedtime, a later sleep onset time, a shorter nocturnal sleep period and a longer daytime nap. Children with a longer nocturnal sleep period on weekends compared with weekdays had longer sleep latency and a later sleep onset time on weekdays, resulting in a lower sleep quality on weekends. An irregular bedtime on weekdays was associated with a later sleep onset time and a shorter sleep period on weekends. Conclusion: Sleep quality and schedule were linked with each other, whiche may explain why sleep problems tend to aggregate and form a wider syndrome of disturbed sleep even in young children. Strategies solely targeting the improvement of sleep quantity may not promote ideal sleep; simultaneous considerations for the sleep rhythm and quality may be required.     

Parent-adolescent agreement on psychosocial symptoms and somatic complaints among adolescents with inflammatory bowel disease

Aim: To investigate parent–adolescent agreement on psychosocial and somatic symptoms in adolescents with inflammatory bowel disease (IBD). Methods: A questionnaire‐based postal survey comprising Finnish adolescents aged 10–18 years with IBD (n = 156) and their parents. Emotional, behavioural and somatic symptoms were measured using the Child Behaviour Checklist (parent report) and the Youth Self‐Report. Results: In paediatric IBD, adolescents and parents agreed on the presence of a psychosocial problem (in subclinical/clinical range) in 5% of the cases but disagreed in 21%. In 74% of the dyads, respondents agreed that no problems existed. Agreement in reporting psychosocial or somatic symptoms was poor to low (κ = 0.00–0.38). The lowest agreement was on anxious/depressed mood (κ = 0.02) and thought problems (κ = 0.00) and the highest on social problems. The parents reported more somatic symptoms in their adolescents than the adolescents themselves (p < 0.001). Conclusion: Young IBD patients and their parents disagree in reporting psychosocial and somatic symptoms of the patients. The adolescents as well as their parents need to be involved; otherwise, many symptoms of clinical significance would go unnoticed.     

The price of pruritus: sleep disturbance and cosleeping in atopic dermatitis

BACKGROUND: Atopic dermatitis is a common skin disorder that most often begins in infancy. Sleep disturbances in children with atopic dermatitis are likely due to itching and scratching and not only impact the afflicted child but may also affect the entire family. Sleep characteristics in young children with atopic dermatitis and their families have not been thoroughly investigated. OBJECTIVE: To evaluate sleep disturbance and cosleeping in young children with atopic dermatitis and evaluate the association between sleep characteristics and features of the disease. DESIGN AND METHODS: Parents of 300 children ranging in age from birth to 6 years with atopic dermatitis responded to 4 questions about sleep characteristics of their child and family. Analyses determined the prevalence of reported sleep disturbance and cosleeping, and their association with features of the patients and disease severity. RESULTS: Sleep disturbance attributed to atopic dermatitis was common; most parents (> 60%) reported that the dermatitis affected how well they or their child slept. Cosleeping because of the skin condition was reported by 30% of families, and most of these parents (66%) were bothered by the cosleeping. Sleep disturbance and cosleeping were directly associated with severity of atopic dermatitis and with the degree to which parents reported that the atopic dermatitis affected the child and family's happiness. CONCLUSIONS: Sleep disturbances were more common in children with atopic dermatitis than have been reported in children overall. These results demonstrate important sequelae of a very common childhood condition that warrant further investigation and the development of intervention strategies.     

Prevalence and pattern of childhood abdominal pain in an Australian general practice

OBJECTIVE: Abdominal pain is a common problem in childhood and accounts for a significant workload in general practice. The aim of this study was assess the nature of abdominal pain in a sample of Australian children attending a Western Australian general practice for any reason, and to determine factors associated with the reporting of such pain. METHODOLOGY: A prospective study of children and their families attending a rural general practice was undertaken using a parental survey to assess the frequency and nature of abdominal pain, demographic features, physical and behavioural characteristics. RESULTS: Abdominal pain was common in this population; 44% (70 of 164) of parents reported that the index child had experienced abdominal pain in the past 12 months. The average age of children who experienced recent abdominal pain was 9 years and 9 months. Multivariate analysis suggested that children experiencing abdominal pain in the preceding 12 months were more likely to be anxious (odds ratio (OR) = 3.74, P = 0.01), to have a family history of similar problems in siblings (OR = 4.26, P = 0.01) and to experience sleep disturbance (OR = 3.90, P = 0.02) than children without abdominal pain. Consumption of three or more serves of wholemeal bread or cereals per day had a significant protective effect on reported abdominal pain in children (OR = 0.12, P = 0.03). The majority of families (66%) dealt with the pain without resorting to medical care. CONCLUSIONS: Abdominal pain remains a common problem of children attending an Australian general practice, and was associated with features suggesting that it is related to anxiety and coping ability. Abdominal pain is not usually associated with disease; most families recognize this and cope with abdominal pain without medical consultation.     

Behavioural Treatment for Sleep Problems in Children with Severe Learning Disabilities and Challenging Daytime Behaviour: Effect on Daytime Behaviour

The study aimed to investigate a group of children with severe learning disabilities, challenging daytime behaviour, and severe sleep problems to see if successful behavioural treatment of the children's sleep problems resulted in reduced daytime challenging behaviour as reported by mothers and teachers. A randomised controlled trial of behavioural interventions for the children's sleep problems was conducted (N = 30). The intervention group received an individually tailored behavioural programme and were supported by telephone calls from the therapist. Baseline assessments of the children's behaviour were made using the Aberrant Behavior Checklist and were repeated 1 month and 3 months after the start of intervention. There were no behavioural changes that were specific to children in the treatment group. However, improvements in some behaviours were seen in both the intervention and the control group at the 1-month and 3-month assessments and there was agreement between mothers' and teachers' reports for many of these changes. The results suggest that nonspecific effects of participating in the study (including an increased sleep duration, which was seen in both groups), rather than resolution of sleep problem per se, may have a beneficial effect on child behaviour and these factors need to be identified for therapeutic use.     

Maternal psychological control and child internalizing symptoms: vulnerability and protective factors across bioregulatory and ecological domains

Background: We examined ecological (family socioeconomic status (SES)) and bioregulatory (sleep duration, sleep efficiency) moderators of the link between maternal psychological control and children’s vulnerability to internalizing symptoms. Method: A large socioeconomically diverse sample of third graders (N = 141) and their mothers participated. Sleep was examined via actigraphy for one week. Psychological control and internalizing symptoms (depressive symptoms, anxiety symptoms, pre‐sleep arousal) were examined through children’s reports. Results: For children with poorer sleep, lower SES, or a combination of the two, maternal psychological control was positively related to depressive symptoms; this association was not evident for children with both better sleep and higher SES. Further, maternal psychological control, sleep efficiency, and SES interacted to predict both anxiety symptoms and pre‐sleep arousal. Children were protected from the negative effects of psychological control when they were from higher SES families and had higher sleep efficiency; for all other groups of children, psychological control was associated with anxiety symptoms. A similar but less robust pattern of results was found for pre‐sleep arousal. Conclusions: Findings highlight the importance of children’s bioregulatory processes within the socioeconomic context for an enhanced understanding of children’s vulnerability to internalizing problems in the context of maternal psychological control.     

Inflammatory measures in children with obstructive sleep apnoea

AIM: To evaluate a range of inflammatory measures in children with obstructive sleep apnoea (OSA). METHODS: In total, 44 children with polysomnographically defined OSA (30 boys; mean age: 7.3 +/- 3.7 years) and 69 control subjects (44 boys; mean age: 7.6 +/- 4 years) were recruited. Controls were screened for symptoms of OSA by questionnaire at the time of elective surgery that was unrelated to the upper airway. Blood samples were analysed for C-reactive protein, and cytokines IL-1beta, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12, GM-CSF, IFN-gamma and TNF-alpha. RESULTS: The majority of the children had mild OSA (32/44). Children with OSA (respiratory disturbance index 5.3 +/- 6.5 events/h) had significantly higher IFN-gamma and IL-8 levels than controls (P < 0.001 and 0.003, respectively), although correction for age, sex and body mass index reduced these differences (IFN-gammaP = 0.002, and IL-8 P = 0.051). There were no significant correlations between inflammatory measures and body mass index, respiratory disturbance index, or other sleep, desaturation, or arousal parameters including respiratory or spontaneous arousal indices, desaturation index or severity, sleep efficiency, or apnoea/hypopnoea duration in the OSA group. CONCLUSION: Children with OSA, even of mild severity, have significantly elevated IFN-gamma levels and a trend towards elevated IL-8 levels compared with asymptomatic controls, consistent with a pro-inflammatory effect of OSA. These changes seen in mild OSA may precede changes in other pro-inflammatory cytokines found in studies of adults with more severe and long-standing disease, implying a potential benefit from early disease identification and intervention.     

ADHD symptoms and maturity – a follow‐up study in school children

Aim: To test the hypothesis that there is a subgroup of children with attention deficit hyperactivity disorder (ADHD) who show a decline in ADHD‐symptoms that is associated with signs of biological maturation, a phenomenon referred to as a ‘maturation catch‐up’. Methods: The parents of 147 children who were given an examination in grades one and two 1999–2000 that included assessment of ADHD‐symptoms and estimation of skeletal bone‐age by use of hand radiographs (which was repeated in the eighth grade), were contacted 2008–2009 and were asked to answer questions concerning ADHD‐symptoms and behavioural maturity in their children. The response frequency was 67%. A complete dataset was achieved in 57 children. A reduction of Conners scores for ADHD‐symptoms of eight or more between the evaluations was defined as a marked reduction in symptoms. Results: When the children with a marked symptom reduction (n = 6) were compared with children without such a reduction (n = 51), we found a significant difference in skeletal maturation (p < 0.05). Conclusion: This study gives support to the theory that there is a group of children with ADHD‐symptoms who have a biological maturational‐lag who will show a decrease in their ADHD‐symptoms as they show a maturation catch‐up with increasing age.     

Aetiological factors and development in subjects with obstructive sleep apnoea

OBJECTIVE: To examine whether maternal pregnancy complications, adverse birth events, respiratory illnesses, or developmental difficulty were increased in neurologically normal children with obstructive sleep apnoea (OSA) and whether severity of OSA adversely affects the child's development and temperament. METHODOLOGY: Maternal report of perinatal events, respiratory illness and developmental difficulty in 37 children with OSA was contrasted with a comparison group (n = 67). Children with OSA were assessed developmentally (Griffiths Scales), had a parental rating of temperament (Australian Temperament Scale) and attended an overnight polysomnographic sleep study. RESULTS: Children with OSA had an increased prevalence of adverse maternal pregnancy and perinatal events, respiratory disease and developmental concerns. Limited associations were found between the severity of OSA and development or temperament difficulty. CONCLUSIONS: This study suggests a relationship between OSA, though not its severity, and pre/perinatal adversity and child development. Polysomnographic and detailed developmental assessment of community-based samples of children with OSA and control children are necessary to confirm these findings.