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. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62.0% females) recruited from non-clinical settings. Several HQoL domains, including life satisfaction, mental health, sleep, pain, gastrointestinal problems, oral health, and social support, were compared between the NF1 sample and 46,293 controls from the HUNT3 population study. We also examined gender differences within the NF1 sample and predictors of HQoL. Compared to controls, the NF1 sample reported significantly poorer life satisfaction, mental health, sleep, and oral health, and more pain, gastrointestinal problems, comorbid diseases, and memory problems. Several HQoL domains were significantly correlated. Mental health was the only unique significant predictor of overall life satisfaction. Women with NF1 reported significantly more mental health, sleep, and pain problems than men with NF1. Mental health assessment and management should be integrated into clinical care of persons with NF1 to potentially improve their HQoL.

Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.

BACKGROUND: Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals. Knowledge about how persons with rare disorders perceive health services can help inform service providers to enhance their practices. METHODS: We conducted a self-report survey among adults with the rare disorders hereditary spastic paraparesis (HSP; n = 108; mean age 57.7 years; 54.2% females) and neurofibromatosis type 1 (NF1, n = 142; mean age = 50.3 years; 62.0% females). Their responses concerning perceived health experiences were compared to healthy controls from the population study HUNT-3 (n = 7,312). RESULTS: Both rare disorder groups reported lower satisfaction, trust, and participation in meetings with their general practitioner and specialist health services. More reported health problems were overall associated with poorer health service experiences. CONCLUSION: There is a need to identify predictors of health service experiences at the patient and health service provider levels with the aim to tighten the gap between the health experiences of patients with and without rare disorders.

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. In total, two males and eight females between one and 48 years of age with a genetically confirmed diagnosis of WHS and their parents participated in this study. Deletion sizes were known for seven of the ten patients and varied between 55 Kb and 20 Mb. The chromosome coordinates were known for six of them, and none of those had the same break points in their deletion. The main finding in this study was that patients with WHS may have a better outcome regarding motor skills and expressive communication than previously described. We could confirm the main medical findings described earlier, but found also a population with a less severe dysmorphology, fewer congenital malformations, and fewer medical challenges than expected. Sleep problems may persist into adulthood and need a more thorough investigation. Research on possible indications of ASD is strongly needed for targeted interventions. In conclusion, a more thorough assessment of communication, possible ASD, and sleep in larger groups of patients with WHS are needed to confirm and further investigate the findings from this study and to provide more targeted interventions for WHS patients.

Health survey of adults with hereditary spastic paraparesis compared to population study controls.

BACKGROUND: Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Little is known about the disease burden for adults with HSP beyond the described core symptoms. METHODS: A cross-sectional survey of 108 adults aged 30 years and older (Mage = 57.7 years, SD = 11.5, range 30 to 81; 54.2 % females) recruited from a national center of expertise for rare disorders and a patient advocacy organization in Norway. Self-report data from the HSP sample was compared to self-report data from a large Norwegian population study, HUNT3 (N = 46,293), covering health-related variables such as overall life satisfaction, mental wellbeing, memory function, perceived pain, and co-morbid diseases. In addition, the HSP sample reported specific items developed for this study in co-operation with the patient advocacy organization. RESULTS: The HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP. CONCLUSIONS: Adults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.

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 9q34.3 deletions that caused Euchromatin Histone Methyl Transferase 1 (EHMT1) haplo-insufficiency, and four patients harbored EHMT1 mutations. The 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 or Adult Behavior Checklist (CBCL, ABCL) were used for the behavioral assessment. All patients showed a delayed developmental status. Muscular hypotonia and its manifestations were present in all patients, regardless of their age. The mean values for all VABS II domains (communication, socialization, daily living skills, and motor skills) were significantly lower than the mean of the reference population (p < 0.001), but similar to other rare intellectual disabilities such as Smith-Magenis syndrome and Angelman syndrome. The results from the SCQ indicated that all patient values exceeded the cut-off value, suggesting the possibility of autism spectrum disorder. The behavioral and emotional problems assessed by CBCL and ABCL were less frequent. In conclusion, patients with Kleefstra syndrome present with a broad range of clinical problems in all age groups and are therefore in need of a multidisciplinary follow-up also after their transition into adulthood.