A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Bilateral perisylvian polymicrogyria (BPP) is a structural malformation of the cerebral cortex that can be caused by several genetic abnormalities. The most common clinical manifestations of BPP include intellectual disability and epilepsy. Cytoplasmic FMRP-interacting protein 2 (CYFIP2) is a protein that interacts with the fragile X mental retardation protein (FMRP). CYFIP2 variants can cause various brain structural abnormalities with the most common clinical manifestations of intellectual disability, epileptic encephalopathy and dysmorphic features. We present a girl with multiple disabilities and BPP caused by a heterozygous, novel, likely pathogenic variant (c.1651G>C: p.(Val551Leu) in the CYFIP2 gene. Our case report broadens the spectrum of genetic diversity associated with BPP by incorporating CYFIP2.

Blood pressure in adults with cerebral palsy: a systematic review and meta-analysis of individual participant data.

OBJECTIVES: This systematic review and meta-analysis was designed to determine the overall mean blood pressure and prevalence of hypertension among a representative sample of adults living with cerebral palsy by combining individual participant data. Additional objectives included estimating variations between subgroups and investigating potential risk factors for hypertension. METHODS: Potential datasets were identified by literature searches for studies published between January 2000 and November 2017 and by experts in the field. Samples of adults with cerebral palsy (n ≥ 10, age ≥ 18 years) were included if blood pressure data, cerebral palsy-related factors (e.g. cerebral palsy subtype), and sociodemographic variables (e.g. age, sex) were available. Hypertension was defined as at least 140/90 mmHg and/or use of antihypertensive medication. RESULTS: We included data from 11 international cohorts representing 444 adults with cerebral palsy [median (IQR) age of the sample was 29.0 (23.0-38.0); 51% men; 89% spastic type; Gross Motor Function Classification System levels I-V]. Overall mean SBP was 124.9 mmHg [95% confidence interval (CI) 121.7-128.1] and overall mean DBP was 79.9 mmHg (95% CI 77.2-82.5). Overall prevalence of hypertension was 28.7% (95% CI 18.8-39.8%). Subgroup analysis indicated higher blood pressure levels or higher prevalence of hypertension in adults with cerebral palsy above 40 years of age, men, those with spastic cerebral palsy or those who lived in Africa. BMI, resting heart rate and alcohol consumption were risk factors that were associated with blood pressure or hypertension. CONCLUSION: Our findings underscore the importance of clinical screening for blood pressure in individuals with cerebral palsy beginning in young adulthood.

Age at Death in Individuals with Intellectual Disabilities.

BACKGROUND: We aimed to ascertain the average age at death (AD) in the intellectual disability population for each gender and compare them to those of the general population during 1970-2012. METHODS: By analysing medical records, we calculated the ADs of all deceased clients (N = 1236) of two district organizations responsible for intellectual disability services. Statistics Finland's database generated data regarding ADs of all inhabitants who had died after having resided in same district. RESULTS: During the follow-up, average ADs for the intellectual disability population and general population increased, and simultaneously the AD difference between these populations decreased. In the 2000s, the AD difference between the intellectual disability population and the whole population was 22 years for men (95% CI: -24 to -20) and 30 years for women (95% CI: -33 to -27). In 2000s, the mean AD of those with mild-to-moderate intellectual disability (IQ 50-69) for women and men was 56 (SD17) and 54 (SD18), and those with severe to profound intellectual disability (IQ<50), 44 (SD23) and 43 (SD21). CONCLUSIONS: Intellectual disability is still a considerable risk factor for early death. Among the intellectual disability population, unlike in general population, the lifespans of women and men are equal.

Mortality in individuals with intellectual disabilities in Finland.

OBJECTIVES: This study aimed at ascertaining the standardized mortality ratios (SMR) for those with an intellectual disability (ID) in Finland. MATERIALS AND METHODS: We used the statistical database of the national insurance institution of Finland and Statistics Finland's mean population figures. We determined the number of individuals who received benefits (disability allowance, disability pension, or care allowance for pensioners) due to an ID diagnosis and the number of those whose benefit had been terminated due to death during the years 1996-2011. RESULTS: SMR for females with a mild ID (IQ 50-69) was 2.8 (95% CI: 2.60-3.01) and for males 2.0 (95% CI: 1.88-2.14), and for females with a severe ID (IQ <50) 5.2 (95% CI: 4.99-5.50) and for males 2.6 (95% CI: 2.48-2.72). CONCLUSION: This significant difference in the SMR figures between males and females with ID warrants further research.

[Cannabinoid mouth spray brought help to a severely spastic young man]. / Kannabinoidi-suusuihke toi avun vaikeasti spastiselle nuorelle miehelle.

Cannabinoid was licensed in 2012 for the treatment of spasticity associated with multiple sclerosis in Finland. Spasticity is one of the main symptoms in cerebral palsies and a risk factor of multiple painful anomalies of the skeletal network. We describe a 28-year-old man with severe cerebral palsy, whose quality of life improved and the need for help decreased by using two daily mouth sprays of cannabinoid.

Sleep wake cycling in early preterm infants: comparison of polysomnographic recordings with a novel EEG-based index.

OBJECTIVE: To document the occurrence of genuine sleep stages in the early preterm babies, and to develop an EEG-based index for following sleep wake cyclicity. METHODS: Twelve preterm babies were recruited from a study that assessed ventilator strategies. We used altogether 18 polysomnography recordings that were collected at mean conceptional age of 29.3 (25.9-32.7) weeks. Spontaneous activity transients (SAT) were detected automatically and their cumulative coverage in each 20s interval was computed from the EEG derivations C3-A2 and O2-A1. Mean SAT% values between sleep stages were compared. RESULTS: All babies exhibited all sleep stages, however the sleep was remarkably fragmentary in infants due to their respiratory issues. The EEG index, SAT% showed temporal behavior that strikingly well compared with the sleep stage fluctuations in the hypnogram. In the statistical analysis we found significant differences in all recordings between the deep (quiet) sleep and the REM sleep. CONCLUSION: Genuine sleep states exist in the early preterm babies, and changes in sleep stages are reflected in the EEG activity in a way that can be readily measured by assessing fluctuation of the automatically detected, EEG based index, the SAT%. SIGNIFICANCE: The findings open a possibility to construct automated analysis or monitoring of sleep wake cyclicity into brain monitors in neonatal intensive care unit.