Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Background: Angelman syndrome (AS) is a developmental disorder caused by one of four molecular aetiologies. Affected individuals have intellectual disability (ID), limited speech, seizures and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs.

Development and Evaluation of Decision Partner: A Decision Aid for HIV Remission Clinical Trial Participation.

HIV remission (or cure) clinical trials require potential participants to understand trial-related risks, approaches to minimize risks, potential benefits, procedures, and participation alternatives to make an informed decision. Decision aids (DAs) support preference-sensitive decisions. We report on the development and evaluation of a DA called Decision Partner, designed to support informed consent.

The influence of parent and couple characteristics on parental responsivity during parent-child interactions in families of children with fragile X syndrome.

Background: Parents of children with fragile X syndrome (FXS) experience elevated levels of parenting stress due to the challenges associated with raising a child with significant disabilities. Biological mothers of children with FXS are at an increased genetic risk for experiencing mental health challenges. Parental mental health challenges and stress are often associated with reduced marital cohesion and satisfaction, which may spill over and negatively affect the parent-child relationship for both mothers and fathers.

Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items.

Objective: The Bayley Scales of Infant and Toddler Development- 4th Edition (Bayley-4) and Vineland Adaptive Behavior Scales - 3rd Edition (Vineland-3) are outcome measures often considered as primary endpoints in clinical trials for Angelman syndrome (AS). We explored barriers encountered when administering these instruments to individuals with AS and associated guidance for their use in trials and research studies.

Methods: We interviewed nine clinicians who have administered the Bayley-4 and/or the Vineland-3 to individuals with AS and analyzed their transcripts using a quasi-deductive analysis approach.

Parental stress and family quality of life in families of individuals living with Angelman syndrome.

Background: Angelman syndrome (AS) is a developmental disorder caused by one of four molecular etiologies. Affected individuals have intellectual disability (ID), limited speech, seizures, and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs.

Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome using a Delphi Panel.

Objectives: To develop within-patient meaningful score differences (MSDs) on the Bayley Scales of Infant Development, Fourth Edition (Bayley-4), and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), for individuals with Angelman syndrome (AS).

Methods: A Delphi method, involving a panel of 19 caregivers of individuals with AS, was used to establish MSDs for Bayley-4 and Vineland-3 Growth Scale Values. MSD was defined as the smallest change that would noticeably impact the daily functioning of an individual with AS or family quality of life in a way that was important to the individual with AS or their family.

Parent Reports of Developmental Service Utilization After Newborn Screening.

Newborn screening (NBS) presents an opportunity to identify a subset of babies at birth who are at risk for developmental delays and could benefit from a range of developmental services. Potential developmental services in the United States include Part C Early Intervention (EI), private therapies, and school-based services. Using parent-reported outcomes, this study examined the rates at which a sample of children diagnosed with NBS conditions used each developmental service.

Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms.

Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already mandated in multiple states, refining NBS algorithms is of utmost importance. NBS for DMD involves measuring creatine kinase-MM (CK-MM) concentration-a biomarker of muscle damage-in dried blood spots.

Developmental milestones and daily living skills in individuals with Angelman syndrome.

Background: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz.

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g.

Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4-8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC.

Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome.

Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother-child relationship. The current study examined relationships between parent behavior (i.e.

Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.

Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the Early Check voluntary NBS research program in North Carolina, United States.

Methods: We performed screening for creatine kinase-MM (CK-MM), a biomarker of muscle damage, on residual routine newborn dried blood spots (DBS) from participating newborns.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.

The premutation of the fragile X messenger ribonucleoprotein 1 () gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death.

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes.

Family and Caregiver Characteristics Contribute to Caregiver Change in Use of Strategies and Growth in Child Spoken Language in a Parent-Implemented Language Intervention in Fragile X Syndrome.

Purpose: This study examined relationships among family characteristics, caregiver change in use of strategies, and child growth in spoken language over the course of a parent-implemented language intervention (PILI) that was developed to address some of the challenges associated with the fragile X syndrome (FXS) phenotype.

Method: Participants were 43 parent-child dyads from two different PILI studies, both of which taught parents various language facilitation strategies to support child language. Before starting the intervention, parents reported on their mental health, parenting stress, and parenting competence.

Mental Health Challenges, Parenting Stress, and Features of the Couple Relationship in Parents of Children With Fragile X Syndrome.

Background: Individuals with fragile X syndrome (FXS) have significant delays in cognition and language, as well as anxiety, symptoms of autism spectrum disorder, and challenging behaviors such as hyperactivity and aggression. Biological mothers of children with FXS, who are themselves premutation or full mutation carriers, are at elevated risk for mental health challenges in addition to experiencing stress associated with parenting a child with significant disabilities. However, little is known about fathers in these families, including the ways in which parental well-being influences the mother-father relationship and the impact of child characteristics on paternal and couple functioning.

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.

Background: The purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (PILI), delivered via distance video teleconferencing to both treatment groups, lovastatin and placebo.

Method: A randomized, double-blind trial was conducted at one site in the Sacramento, California, metropolitan area. Fourteen participants were assigned to the lovastatin group; two participants terminated early from the study.