Nutritional challenges in children and adolescents with Down syndrome.

Several features and comorbidities in Down syndrome have nutritional implications and consequences. In infancy and early childhood, children with Down syndrome have a high risk of oral motor difficulties and pharyngeal dysphagia with aspiration, which both require systematic attention. To improve nutritional status in children who are underweight and who have clinical signs of feeding problems, further evaluation of underlying causes is required.

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome.

A few studies have examined neuropsychological functions, sleep, and mental health combined in Klinefelter syndrome (KS; 47,XXY). We investigated neuropsychological functions with standard tests, sleep with actigraphy, and self-reported mental health in 30 men with KS (Mean age = 36.7 years) compared to 21 controls (Mean age = 36.

School-based targeted prevention compared to specialist mental health treatment for youth anxiety.

Background: The 'FRIENDS for life' program (FRIENDS) is a 10-session cognitive behavioral therapy (CBT) program used for prevention and treatment of youth anxiety. There is discussion about whether FRIENDS is best applied as prevention or as treatment.

Methods: We compared FRIENDS delivered in schools as targeted prevention to a previous specialist mental health clinic trial.

Age-related changes in behavioural and emotional problems in Smith-Magenis syndrome measured with the Developmental Behavior Checklist.

Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age, gender, adaptive behaviour and autism symptomatology. Twenty-eight persons with SMS were represented by their parents in this study.

The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy.

Background: Low bone mineral density and an increased risk of appendicular and vertebral fractures are well-established consequences of Duchenne muscular dystrophy (DMD) and the risk of fractures is exacerbated by long-term glucocorticoid treatment. Monitoring of endocrine and skeletal health and timely intervention in at-risk patients is important in the management of children with DMD.

Methods: As part of the Norwegian Duchenne muscular dystrophy cohort study, we examined the skeletal maturation of 62 boys less than 18 years old, both currently glucocorticoid treated ( = 44), previously treated ( = 6) and naïve ( = 12).

Lexical and gestural development in 5p deletion syndrome-A case report.

Purpose: Individuals with 5p deletion syndrome (also known as cri du chat syndrome) have various speech and language problems. The aim of this work was to examine early gestural and lexical development in a boy with this syndrome and to see to what extent his skills in these areas were delayed and/or deviant when compared to typically developing children.

Method: The participant's parents completed the Norwegian adaptation of the MacArthur-Bates Communicative Development inventories (CDI) ten times over a period of five years.

Health complaints and work experiences among adults with neurofibromatosis 1.

Background: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with usually benign nerve tumours, skin problems, pain and cardiovascular problems among common complications.

Aims: To examine work participation and experiences in relation to health complaints among adults with NF1.

Methods: We conducted a cross-sectional self-reported survey among 142 persons with NF1 (mean age = 50.

Progressive loss of bone mass in children with Fontan circulation.

Objective: We investigated bone mineral density (BMD) at different ages after the Fontan completion, and we evaluated the relationship between BMD, vitamin D levels, and pertinent patient variables.

Methods: A cross-sectional sample of 64 patients was examined with dual-energy X-ray absorptiometry (DXA) scans to determine BMD. Of these patients, 24 were also examined with BoneXpert software to determine bone mass density (BMX), expressed as the bone health index (BHI).

Parental experiences with behavioural problems in Smith-Magenis syndrome: The need for syndrome-specific competence.

The experience of having a rare disorder was summarised in a large study as 'falling outside the vast field of knowledge of the professionals'. Parents (31 mothers and 17 fathers) of 32 persons with Smith-Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes.

"Do I exist in this world, really, or is it just her?" Youths' perspectives of living with a sibling with anorexia nervosa.

Little is known about how severe anorexia nervosa (AN) in youths affects siblings and siblings' experiences of family-based treatment for AN. Thirteen youths ( age = 15.5 years,  = 3.

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.

Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples.

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.

A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome.

The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment.

Sleep Problems and Life Satisfaction as Predictors of Health in Men with Sex Chromosome Aneuploidies.

More knowledge is needed about men with sex chromosome aneuploidies (SCA). We present self-reported data from 53 men with SCA (M = 36.8 years, SD = 12.

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

The present study aimed to further our understanding of Kleefstra syndrome, especially regarding motor function and behavioral characteristics. In total, four males and four females between two and 27 years of age with a genetically confirmed diagnosis of Kleefstra syndrome and their parents participated in this study. Four patients had 9q34.

Predictors of treatment outcome in an effectiveness trial of cognitive behavioral therapy for children with anxiety disorders.

A substantial number of children with anxiety disorders do not improve following cognitive behavioral therapy (CBT). Recent effectiveness studies have found poorer outcome for CBT programs than what is typically found in efficacy studies. The present study examined predictors of treatment outcome among 181 children (aged 8-15 years), with separation anxiety, social phobia, or generalized anxiety disorder, who participated in a randomized, controlled effectiveness trial of a 10-session CBT program in community clinics.

Competence and Adherence Scale for Cognitive Behavioral Therapy (CAS-CBT) for anxiety disorders in youth: Psychometric properties.

The aim of the present study was to evaluate the psychometric properties of the Competence and Adherence Scale for Cognitive Behavioral Therapy (CAS-CBT). The CAS-CBT is an 11-item scale developed to measure adherence and competence in cognitive-behavioral therapy (CBT) for anxiety disorders in youth. A total of 181 videotapes from the treatment sessions in a randomized controlled effectiveness trial (Wergeland et al.

Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome.

Background: Dietary aspects that might contribute to development of obesity and secondary conditions are not well documented in genetic subgroups associated with intellectual disability.

Objective: To describe the intake frequencies of selected foods in participants with Prader-Willi syndrome (PWS), Down syndrome (DS), and Williams syndrome (WS), and investigate the association with body mass index (BMI). To explore food-related autonomy and intake frequencies among persons with DS in different living arrangements.

Predictors of dropout from community clinic child CBT for anxiety disorders.

The aim was to investigate predictors of treatment dropout among 182 children (aged 8-15 years) participating in an effectiveness trial of manual-based 10-session individual and group cognitive behavior therapy (CBT) for anxiety disorders in community clinics. The dropout rate was 14.4%, with no significant difference between the two treatment conditions.

"She came out of mum's tummy the wrong way". (Mis)conceptions among siblings of children with rare disorders.

Misconceptions or uncertainty about the rare disorder of a sibling may cause adjustment problems among children. New knowledge about their misconceptions may enable genetic counselors to provide targeted information and increase siblings' knowledge. This study aims to describe misconceptions and uncertainties of siblings of children with rare disorders.

An effectiveness study of individual vs. group cognitive behavioral therapy for anxiety disorders in youth.

Objective: Conducted a randomized controlled trial to investigate the effectiveness of cognitive behavioral therapy (CBT), and compared the relative effectiveness of individual (ICBT) and group (GCBT) treatment approaches for anxiety disorders in children and adolescents.

Methods: Referred youth (N = 182, M age = 11.5 years, range 8-15 years, 53% girls) with separation anxiety, social phobia, or generalized anxiety disorder were randomly assigned to ICBT, GCBT or a waitlist control (WLC) in community clinics.

Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome.

In this study we describe by use of accelerometers the total physical activity (PA), intensity pattern and walking capacity in 87 persons age 16-45 years with Down syndrome (DS), Williams syndrome (WS) and Prader-Willi syndrome (PWS). Participants were recruited from all over Norway, and lived either with their parents or in community residences with support. On average the participants generated 294 counts per minute (cpm) or 6712 steps per day, with most of the day spent in sedentary activity, 522 min/day, followed by 212 min/day in light PA, 71 min/day in lifestyle activity and 27 min/day in moderate-to-vigorous physical activity (MVPA).

Stressful life experiences and mental health problems among unaccompanied asylum-seeking children.

Unaccompanied asylum-seeking children aged 10-16 years (N = 93, M = 13.8, SD = 1.4, 81% boys) were assessed 6 months after arrival in Norway (SD = 5 months).

Young adults' experience of living with neurofibromatosis type 1.

Neurofibromatosis Type 1 (NF1) may have many psychosocial consequences for affected adults. More knowledge is needed about the experience of psychosocial aspects in different stages of adulthood. This qualitative study aims to describe the experiences and concerns of persons living with NF1 in the early stages of adulthood.

Nutritient intake of young children with Prader-Willi syndrome.

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting in obesity. The diets for young children with PWS must balance the importance of preventing development of obesity with the need to supply sufficient energy and essential nutrients.

Objective: To investigate the nutritional intake for children with PWS 2, 3, and 4 years of age and compare it with Nordic Nutritional Recommendations (NNR) and intake of healthy controls.