Quality of Life in Angelman Syndrome: A Caregivers' Survey.

Background: Angelman syndrome (AS) is a genetic disorder, characterized by a cheerful disposition with bouts of laughter, developmental delay, speech impairment, ataxia, and seizures. Previous AS surveys have focused on the natural history, describing seizure types and response to anti-seizure medications.

Methods: A web-based survey was distributed to caregivers of individuals with AS to characterize motor function, cannabidiol (CBD) use, and factors affecting quality of life (QOL).

Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.

Objective: To evaluate effects of sapropterin dihydrochloride on blood phenylalanine (Phe) and symptoms of neuropsychiatric impairment in children and adolescents with phenylketonuria (PKU).

Study Design: PKU subjects 8-17 years of age (n = 86) were randomized to double-blind treatment with sapropterin (n = 43) or placebo (n = 43) for 13 weeks, then all received open-label sapropterin therapy for an additional 13 weeks. Blood Phe and symptoms of inattention, hyperactivity/impulsivity (Attention-Deficit/Hyperactivity Disorder Rating Scale IV [ADHD RS-IV]), executive functioning (Behavior Rating Inventory of Executive Function), depression (Hamilton Rating Scale for Depression), and anxiety (Hamilton Rating Scale for Anxiety) were assessed.

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

Background: Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result, evidence on the management of adolescents and young adults with PKU is limited.

Methods: Two meetings were held with a multidisciplinary international panel of 25 experts in PKU and comorbidities frequently experienced by patients with PKU.

Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.

Pegvaliase is approved to reduce phenylalanine (Phe) levels for people with phenylketonuria (PKU). PRISM-1 (NCT01819727) and PRISM-2 (NCT01889862) data were analyzed to evaluate the relationship between Phe and inattention in adult participants with PKU. In the modified-intent-to-treat population (N = 156), baseline mean (SE) plasma Phe was 1263 (29) μmol/L and the Attention Deficit Hyperactivity Disorder Rating Scale-IV Inattentive (IA) symptoms score was 9.

Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU.

Objective: Previous research has documented executive function (EF) impairments in individuals with early treated phenylketonuria (ETPKU). It remains unclear, however, whether some aspects of EF may be more affected than others. A number of factors, including small sample sizes and variability in EF tasks, have likely contributed to past mixed findings.

Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.

Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans.

Exposure to Violence and Virologic and Immunological Outcomes Among Youth With Perinatal HIV in the Pediatric HIV/AIDS Cohort Study.

Purpose: Exposure to violence in childhood has been linked to adverse health outcomes. Little is known about the prevalence and relationship of youth and caregiver violence exposure to clinical outcomes among youth with perinatal human immunodeficiency virus (HIV) infection (PHIV). We evaluated associations of youth and caregiver violence exposure with unsuppressed viral load (VL) (HIV RNA > 400 copies/mL) and CD4% <25% among 8- to 15-year-old participants with PHIV in the Pediatric HIV/AIDS Cohort Study Adolescent Master Protocol.

Antiretroviral Drug Resistance Among Children and Youth in the United States With Perinatal HIV.

Among 234 US youths with perinatal human immunodeficiency virus, 75% had antiretroviral resistance, substantially higher than that of the reference laboratory overall (36%-44%). Resistance to newer antiretrovirals and to all antiretrovirals in a class was uncommon. The only factor independently associated with future resistance was a higher peak viral load.

Prevalence and Persistence of Varicella Antibodies in Previously Immunized Children and Youth With Perinatal HIV-1 Infection.

Background: Two doses of live-attenuated varicella-zoster vaccine are recommended for human immunodeficiency virus 1 (HIV-1)-infected children with CD4% ≥ 15%. We determined the prevalence and persistence of antibody in immunized children with perinatal HIV (PHIV) and their association with number of vaccinations, combination antiretroviral therapy (cART), and HIV status.

Methods: The Adolescent Master Protocol is an observational study of children with PHIV and perinatally HIV-exposed but uninfected (PHEU) children conducted at 15 US sites.

Prevalence, incidence, and persistence of psychiatric and substance use disorders among mothers living with HIV.

Objective: To evaluate prevalence, incidence, remission, and persistence of psychiatric and substance use disorders among HIV-infected mothers and identify biopsychosocial correlates.

Methods: HIV-infected mothers (n = 1223) of HIV-exposed uninfected children enrolled in a prospective cohort study; HIV-uninfected mothers (n = 128) served as a comparison group. Mothers provided sociodemographic and health information and completed the Client Diagnostic Questionnaire (CDQ).

Newborn screening 50 years later: access issues faced by adults with PKU.

Fifty years after the implementation of universal newborn screening programs for phenylketonuria, the first disease identified through newborn screening and considered a success story of newborn screening, a cohort of adults with phenylketonuria treated from birth provides valuable information about effects of long-term treatment for inborn errors of metabolism in general, and phenylketonuria specifically. For phenylketonuria, newborn screening allows early implementation of the phenylalanine-restricted diet, eliminating the severe neurocognitive and neuromotor impairment associated with untreated phenylketonuria. However, executive function impairments and psychiatric problems are frequently reported even for those treated early and continuously with the phenylalanine-restricted diet alone.

Intracranial localisation of ictal urinary urge epileptogenic zone to the non-dominant temporal lobe.

Ictal urinary urge is a rare symptom of focal epilepsy usually localising to the non-dominant hemisphere, specifically, the temporal lobe. Lateralisation in previously described cases has been established using scalp video-EEG monitoring or functional imaging. We report the case of a 19-year-old girl with refractory epilepsy and ictal urinary urge arising from the non-dominant temporal lobe, confirmed by invasive, subdural EEG monitoring.

Metabolic abnormalities and viral replication are associated with biomarkers of vascular dysfunction in HIV-infected children.

Objectives: HIV-infected children may be at risk for premature cardiovascular disease. We compared levels of biomarkers of vascular dysfunction in HIV-infected children (with and without hyperlipidaemia) with those in HIV-exposed, uninfected (HEU) children enrolled in the Pediatric HIV/AIDS Cohort Study (PHACS), and determined factors associated with these biomarkers.

Methods: A prospective cohort study was carried out.

Cerebellar gliomatosis in a toddler: case report of a challenging condition and review of the literature.

Gliomatosis confined to the cerebellum is most unusual. We report such a case in a 20-month-old male who presented with unsteadiness. Magnetic resonance imaging revealed a diffuse area of abnormal signal intensity within both cerebellar hemispheres, which did not enhance after contrast administration.

Correlation between child and parental perceptions of health-related quality of life in epilepsy using the PedsQL.v4.0 measurement model.

Health-related quality-of-life measures in childhood epilepsy are typically limited to a particular functional domain, specific age group, parent proxy-report, or child self-report. Generic health-related quality-of-life instruments in paediatric epilepsy comparing child self-reports with simultaneous parent proxy-reports have not been previously investigated. A previously validated generic questionnaire, the Pediatric Quality of Life version 4 (PedsQL.

Sleep patterns in pediatric sickle cell disease.

Background: Research examining sleep in children with sickle cell disease (SCD) has focused on the increased occurrence of specific sleep disorders (i.e., sleep-disordered breathing, hypoxemia, nocturnal enuresis), but no research exists describing general sleep behaviors of children with SCD.

Severity of obstructive sleep apnea in children with sickle cell disease.

Objective: To characterize polysomnographic (PSG) findings of children with sickle cell disease (SCD) suspected of having sleep disordered breathing (SDB).

Methods: Families of 100 consecutively referred children with SCD completed the Children's Sleep Habit Questionnaire during a routine visit to identify concerns regarding sleep habits and sleep behavior. Of these, 48 children were identified as displaying behaviors suspicious of SDB.

Detection of cortical arousals in children using frontal EEG leads in addition to conventional central leads.

Study Objective: This study was designed to assess the efficacy of using Fz as an additional electrode in screening arousals during polysomnography in children.

Methods: Polysomnograms from 24 children were randomly selected from a sleep-study database of children from different diagnostic categories. Of the children whose polysomnograms selected, 5 were normal, 5 had severe obstructive sleep apnea syndrome, 5 had mild obstructive sleep apnea syndrome, 5 had snoring, and 4 had periodic limb movement disorder.

Chronic sorrow and coping in families of children with epilepsy.

Epilepsy, a common problem in child neurology, affects the entire family. There is a potential for such psychosocial consequences as parental chronic sorrow and alterations in coping. In this study, 67 parents completed brief questionnaires about their sorrow and coping styles.

Neuropsychological functioning in preschool-age children with sickle cell disease: the role of illness-related and psychosocial factors.

Cognitive and academic deficits have been identified in school-aged children with sickle cell disease (SCD). However, there have been very few identified studies that examine neuropsychological functioning in preschool-age children with SCD. It is important to understand effects of SCD from a developmental perspective and to consider the contribution of environmental factors in this at-risk population.

Bruxism in children: effect on sleep architecture and daytime cognitive performance and behavior.

Study Objectives: Sleep bruxism is an involuntary mandibular movement with tooth grinding during sleep. The prevalence of sleep bruxism in children is high and may lead to frequent arousals with altered daytime functioning. We investigated the sleep architecture, the incidence of gastroesophageal reflux, and the daytime cognitive behavioral functioning in a group of children with sleep bruxism.