Browse Items · Pediatric Palliative Care Library

Sleep disorders in Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in…

The development and psychometric assessment of a questionnaire to assess sleep and daily troubles in parents of children and young adults with severe psychomotor impairment

Background: Children with severe psychomotor impairment (SPMI) often experience sleep disturbances that severely distress both the child and his or her parents. Validated questionnaires for the assessment of parents' distress related to their child's…

THE PATHOPHYSIOLOGY OF THE RETT SYNDROME FROM THE STANDPOINT OF POLYSOMNOGRAPHY

Tags: 1990, Brain and Development, characteristics, Neurosciences & Neurology, Nomura Y, Rett syndrome, Segawa M, sleep disturbance/disorders, sleep-wake cycle, Trajectory

Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study

The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those…

Insomnia in Cornelia de Lange Syndrome

Objective: Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be…

Aberrant sleep patterns in children with the Rett syndrome

Previous studies on the characteristics of disturbed sleep/wake patterns in children with the Rett syndrome have yielded inconsistent findings. In the current study, momentary time sampling procedures were used to measure the sleep/wake patterns of…

Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment

Sleep disturbances in children with neurodevelopmental disabilities are common and frequently difficult to treat with conventional pharmacological and behavioural methods. Melatonin is a pineal hormone known to be important in the regulation of the…

Tags: 2004, Antioxidants/therapeutic use, Appleton R E, Brain/physiopathology, Child, Developmental Disabilities/drug therapy/epidemiology/physiopathology, Developmental Medicine and Child Neurology, Humans, melatonin, Melatonin/therapeutic use, pharmacologic intervention, Phillips L, Rett syndrome, sleep disturbance/disorders, Sleep Wake Disorders/epidemiology, Wakefulness/physiology

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h,…

Use of melatonin to treat sleep disorders in tuberous sclerosis

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with…

Tags: 1999, Clarke A, Developmental Medicine and Child Neurology, Hancock E, Hunt A B A, melatonin, O'Callaghan F J K, Osborne J P, pharmacologic intervention, sleep disturbance/disorders, Tuberous Sclerosis

Disturbances of Rapid-Eye-Movement Sleep in 3 Brothers with Pelizaeus-Merzbacher Disease

The electrophysiological features of 3 brothers with the classic form of Pelizaeus-Merzbacher disease (PMD) were studied. Two consecutive overnight polygraphic sleep recordings indicated a gross distortion of rapid-eye-movement (REM) sleep for all…

Tags: 1979, Annals Of Neurology, Belluomini J, characteristics, Chien L, Lemmi H, Neurosciences & Neurology, Niakan E, Pelizaeus-Merzbacher disease, REM sleep, sleep disturbance/disorders, Summitt R L, Trajectory

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)

Background: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep…

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease

Aim: The symptoms of Huntington's disease are well known, yet the symptoms of juvenile Huntington's disease (JHD) are less established due to its rarity. The study examined a cluster of symptoms considered to be common, but under-recognized in JHD:…

Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome

We studied the circadian rhythm of serum melatonin levels in two patients with classical Rett syndrome having severe sleep disorders; serum melatonin levels were measured before and during melatonin treatment using radioimmunoassay. Patient 1 had a…

Tags: 1999, Brain and Development, melatonin, Miyamoto A, Oki J, Okuno A, pharmacologic intervention, Rett syndrome, sleep disturbance/disorders, Takahashi S

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

Nine girls with Rett syndrome (mean age, 10.1 years) were monitored 24 hours a day over a period of 10 weeks using wrist actigraphy. Baseline sleep-wake patterns were assessed for 1 week. Subsequently, patients underwent a 4-week melatonin treatment…

Tags: 1998, Budden S S, Developmental Medicine and Child Neurology, McArthur A J, melatonin, pharmacologic intervention, Rett syndrome, sleep disturbance/disorders

Assessment of sleep in children with mucopolysaccharidosis type III

Sleep disturbances are prevalent in mucopolysaccharidosis Type III (MPS III), yet there is a lack of objective, ecologically valid evidence detailing sleep quantity, quality or circadian system. Eight children with MPS III and eight age-matched…

Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome)

Characteristics of sleep and sleep problems were investigated in 43 individuals with 11q terminal deletion disorder (Jacobsen syndrome). Data were collected using a sleep questionnaire. Ten individuals (23%) had a sleep problem. Settling problems,…

Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down's syndrome, and Jacobsen syndrome: A case control study

The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of…

Tags: 2012, characteristics, cri-du-chat syndrome, Curfs L M G, Didden R, Jacobsen syndrome, Korzilius H, Maas A, Research in Developmental Disabilities, sleep disturbance/disorders, Trajectory

Psychometric properties of a sleep questionnaire for use in individuals with intellectual disabilities

We examined the psychometric properties of one part of the Sleep Questionnaire developed by Simonds and Parraga (SQ-SP; 1982), a questionnaire that is frequently used to explore sleep problems and behaviors related to sleep in individuals with…

Tags: 2011, Braam W, Collin P, cri-du-chat syndrome, Curfs L M G, Didden R, Jacobsen syndrome, Korzilius H, Maas A, Research in Developmental Disabilities, Rett syndrome, scale development, sleep disturbance/disorders, Smits M G, tool development

Sleep in individuals with Cri du Chat syndrome: a comparative study

BACKGROUND: Sleep problems are common in individuals with intellectual disability. Little is known about sleep in children and adults with Cri du Chat syndrome (CDC).;METHOD: Sleep was investigated in 30 individuals with CDC using a sleep…

Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.

Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake…

Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Purpose: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and to determine the association between the sleep difficulties and the onset of seizures and loss of vision.Method: We recruited…

Tags: 2016, characteristics, de los Reyes E, Lehwald L M, loss of vision, NCL3, Pappa R, Pediatric Neurology, Seizures, sleep disturbance/disorders, Steward S, Trajectory

Melatonin, cortisol and body temperature rhythms in Lennox-Gastaut patients with or without circadian rhythm sleep disorders

The daily rhythms of melatonin, cortisol and body temperature were studied in 16 institutionalized subjects with the Lennox-Gastaut syndrome. The results of 9 subjects with normal daily rhythms of sleep and wakefulness (group 1) were compared with…

Tags: 1993, Alila A, characteristics, congenital hydrocephalus, Hätönen T, Heiskala H, Journal Of Neurology, Laakso M L, Leinonen L, Lennox-Gastaut syndrome, LGS, sleep disturbance/disorders, Trajectory, West syndrome

Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS)

To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLNS), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances…

Tags: 2001, characteristics, Journal of Child Neurology, Kirveskari E, NCL5, Partinen M, Santavuori P, sleep disturbance/disorders, Trajectory

Sleep Problems in Children With Agenesis of the Corpus Callosum

Background: Very little is known about sleep habits in children with agenesis of the corpus callosum (ACC). The purpose of this investigation was to evaluate sleep problems in children with ACC and examine the association with quality of…

Tags: 2017, agenesis of the corpus callosum, characteristics, Churchill S S, Ingram D G, Pediatric Neurology, Quality Of Life, sleep disturbance/disorders, Trajectory

CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)

Sleep disorders are common in NCL patients, The patients have problems such as frequent awakenings, difficulties with sleep onset, nightmares, and night terrors, The aim of the study was to examine whether the sleep disturbance in NCL can be…

Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy

Melatonin was tested as a sleeping pill in five patients with neuronal ceroid lipofuscinoses. The single-blind, placebo-controlled study consisted of motor activity recordings, sleep logs, and administration of placebo or melatonin (2.5 or 5 mg).…

Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex

We report a randomized, double-blind, controlled, crossover trial investigating the response to oral melatonin using two dose regimens in patients with sleep disorders associated with tuberous sclerosis complex. Eight outpatients with tuberous…

Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin

To determine normal melatonin excretion patterns in healthy children without sleep disorder and to compare these with those of patients with tuberous sclerosis complex and sleep disorder responsive to exogenous melatonin, we measured…

Sleep alterations in juvenile neuronal ceroid-lipofuscinosis

In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common. The purpose of this study was to investigate the sleep structure of 28 patients with JNCL compared with healthy controls subjects and to clarify the pathophysiology…

Melatonin for sleep problems in children with neurodevelopmental disorders: randomised double masked placebo controlled trial

OBJECTIVE: To assess the effectiveness and safety of melatonin in treating severe sleep problems in children with neurodevelopmental disorders. DESIGN: 12 week double masked randomised placebo controlled phase III trial. SETTING: 19 hospitals across…

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome

OBJECTIVE: Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by cholesterol synthesis impairment. A host of physical, developmental, and behavioral presentations are associated with SLOS, many of which have been related with…

Tags: 2016, characteristics, Freeman K A, Journal Of Developmental And Behavioral Pediatrics, Olufs E, Roullet J B, sleep disturbance/disorders, Smith-Lemli-Optiz syndrome, Steiner R D, Trajectory, Tudor M

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.

Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this…

Tags: 2002, Behavior Therapy, characteristics, Clinical Genetics, Data Collection, Delatycki MB, Fraser J, Humans, MPS III, Mucopolysaccharidosis III/complications, NET Files, Physicians, Sleep Disorders/complications, Sleep Disorders/drug therapy, Sleep Disorders/therapy, sleep disturbance/disorders, Trajectory, Wraith JE

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…

Sleep disturbance in Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable…

Tags: 0 (Homeodomain Proteins), 0 (Repressor Proteins), 0 (ZEB2 protein human), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Australia, Behavior Rating Scale, characteristics, Child, Child Preschool, Einfeld S, Evans E, Facies, Female, Gene Expression, Hirschsprung Disease/co [Complications], Hirschsprung Disease/di [Diagnosis], Hirschsprung Disease/ge [Genetics], Hirschsprung Disease/pp [Physiopathology], Homeodomain Proteins/ge [Genetics], Humans, Intellectual Disability/co [Complications], Intellectual Disability/di [Diagnosis], Intellectual Disability/ge [Genetics], Intellectual Disability/pp [Physiopathology], Male, Microcephaly/co [Complications], Microcephaly/di [Diagnosis], Microcephaly/ge [Genetics], Microcephaly/pp [Physiopathology], Middle Aged, Mowat D, Mowat-Wilson syndrome, Mutation, Repressor Proteins/ge [Genetics], Severity Of Illness Index, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/co [Complications], Sleep Initiation and Maintenance Disorders/di [Diagnosis], Sleep Initiation and Maintenance Disorders/ge [Genetics], Sleep Initiation and Maintenance Disorders/pp [Physiopathology], Surveys And Questionnaires, Trajectory, Wilson M

Melatonin for treatment of sleep disorders in children with developmental disabilities

This study explored the safety and efficacy of synthetic melatonin in the treatment of sleep problems in 20 children with developmental disabilities, in a randomized, double-blind, placebo-controlled 6-week trial of melatonin versus placebo. All but…

Tags: 2001, Developmental Disabilities, Dodge N N, Journal of Child Neurology, melatonin, Neurosciences & Neurology, Pediatrics, pharmacologic intervention, sleep disturbance/disorders, unspecified developmental disabilities, Wilson G A

Prolonged-release melatonin for children with neurodevelopmental disorders

Previous studies demonstrated the efficacy and safety of prolonged-release melatonin in children and adolescents with neurodevelopmental and behavioral disorders. The long-term effectiveness and safety of prolonged-release melatonin treatment were…

Tags: 2011, De Leersnyder H, Laudon M, melatonin, Pediatric Neurology, pharmacologic intervention, PR melatonin, prolonged-release melatonin, Rett syndrome, sleep disturbance/disorders, Zisapel N

Sleep problems in children with Sanfilippo syndrome.

Sanfilippo syndrome is a rare degenerative disorder which has severe intellectual and behavioural sequelae, commonly including sleep problems. A parental questionnaire was used to gather information on the sleep patterns of 80 children with…

Melatonin appears ineffective in children with intellectual deficits and fragmented sleep: six "N of 1" trials

Sleep disorders in tuberous sclerosis: a polysomnographic study

Overnight polysomnography was performed in 10 subjects with tuberous sclerosis (TS) and partial epilepsy in order to investigate the relationships between sleep organization, sleep disorders and epilepsy. Sleep architecture abnormalities were…

Melatonin treatment in individuals with intellectual disability and chronic insomnia: a randomized placebo-controlled study

BACKGROUND: While several small-number or open-label studies suggest that melatonin improves sleep in individuals with intellectual disabilities (ID) with chronic sleep disturbance, a larger randomized control trial is necessary to validate these…

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