Screening of dementia indicating signs in adults with intellectual disabilities.

BACKGROUND: In intellectual disability, the cognitive delay is observed during developmental age, whereas in dementia, cognitive decline occurs during post-developmental period. So far, the risk of dementia in people with intellectual disability, excluding those with Down syndrome, is poorly known. METHOD: We screened dementia signs in a study group of 230 adults (34-80 years of age) with the help of the British Present Psychiatric State-Learning Disabilities assessment. RESULTS: Of the study members, 42% showed two or more signs. The overall frequency of symptoms did not differ between age groups. The number of individuals with a genetic syndrome or disease manifesting with a shortened lifespan was greater in the younger age groups when compared to the older age groups. CONCLUSION: People with an intellectual disability represent numerous rare syndromes with comorbidities. It seems that dementia signs may affect any age groups of adults with intellectual disability.

Ageing and cognition in men with fragile X syndrome.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. The aim of our longitudinal study was to describe ageing-related cognitive changes in men with FXS. METHOD: A neuropsychologist determined the raw scores (RSs) of 19 men with FXS twice with the Leiter International Performance Scale at an average interval of 22 years. The ages of the participants at baseline ranged from 16 to 50 (mean 27) years. RESULTS: At follow-up, the RSs improved in two men, remained the same in two men and declined in 15 men. Overall, the RS of the study group deteriorated by an average 4 points in RSs (p < .001). CONCLUSION: Cognitive ageing in men with FXS started earlier than that in men in the general population; in many cases, cognitive ageing in men with FXS began before middle age, usually without any medical or other underlying cause.

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.

[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.

[Successful hypnotherapy in an intellectually disabled patient with drug treatment resistant epilepsy]. / Tuloksekas hypnoterapia kehitysvammaisen potilaan vaikeahoitoisessa epilepsiassa.

The possibility of psychogenic non-epileptic seizures (PNES) should be considered in patients with treatment-resistant epilepsy for whom hypnotherapeutic approach may be tried as one treatment option. Multimodal epileptic seizures as well as various behavioral and dyskinetic disorders are commonly associated with intellectual disabilities. Differentiation of brain derived epileptic seizures from other non-epileptic seizures requires an extensive anamnesis, clinical follow-up of the patient and video-EEG recording of seizures. We describe a patient with mild intellectual disability whose almost daily, drug-resistant epileptic attacks were found to be psychogenic. Hypnotherapeutic relaxation initiated upon mother's suggestion turned out to be useful.

Cognition in adults with Williams syndrome-A 20-year follow-up study.

BACKGROUND: Williams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70-79) or abnormally low intelligence (IQ < 70). According to earlier studies young individuals with WBS demonstrate generally a slightly higher verbal IQ (VIQ) compared to performance/nonverbal IQ (PIQ). WBS was recognized as a distinct entity already about 60 years ago, but still cognition in adults with WBS is poorly known. METHODS: We followed 25 adults (age at baseline 19-68, median 38) with genetically confirmed WBS for about 20 years. The study subjects underwent medical and neuropsychological assessments at the baseline and at the end of follow-up. RESULTS: The mean VIQ remained quite stable from early adulthood up to 40 years of age after which it declined. The mean PIQ kept on improving from early adulthood until 50 years of age after which it gradually declined. At the end of the study, all study subjects had at least two longstanding health problems out of which hypertension, psychiatric disorder, and scoliosis or kyphosis occurred most frequently. At end of the study, two patients suffered from vascular dementia. Seven patients died during the follow-up. CONCLUSIONS: In adults with WBS, the course of cognition is uneven across the cognitive profile. Their verbal functions both develop and deteriorate earlier than performance/nonverbal functions. Frequent somatic co-morbidities may increase risk to shortened life span.

Signs indicating dementia in Down, Williams and Fragile X syndromes.

BACKGROUND: Intellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in distinct genetic subgroups. METHODS: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Fragile X syndrome (FXS, OMIM number 309550), respectively. The median age of those with FXS (59 years) was higher than of those with DS (50 years) and WS (53 years). RESULTS: Most study participants with DS (80%) and FXS (89%) were or had been moderately or severely intellectually disabled while most participants with WS (73%) were or had been mildly or moderately disabled at adolescent age. The adolescent (premorbid) level of ID did not correlate with the dementia score. The median scores were 11/27, 1/27, and 0/27 in DS, WS, and FXS subgroups, respectively. Dementia that was confirmed by brain imaging, manifested as Alzheimer disease and as moya-moya disease associated vascular dementia in DS and as vascular dementia in WS. CONCLUSIONS: This survey suggests that the risk of dementia varies depending on the cause of ID and that the severity of ID in adolescence does not predict the development of dementia at a later age. Consequently, the ID and dementia should be understood as separate clinical entities that need to be taken into account in the health management of intellectually disabled people. This is important for the arrangement of appropriate and timely interventions, which can be expected to delay the need for institutionalization.

Intellectual disability in patients with epilepsy with eyelid myoclonias.

We describe here the clinical outcome of four women with epilepsy with eyelid myoclonia (aged 21-53 years). All patients had an uneventful early history, normal physical growth and appearance and no comorbid sensory or motor disability and normal brain magnetic resonance imaging finding. Two women were moderately and one mildly intellectually disabled and one showed a low-average intelligence. The overall well-being of the patients was hampered by psychiatric or various somatic comorbidities and related psychosocial problems. The three women with an intellectual disability had been treated with narrow-spectrum antiepileptic drugs and one also with vigabatrin during childhood and adolescence. The patient with a low-average intelligence had been on broad-spectrum antiepileptic medication (i.e. valproate and ethosuximide) since the epilepsy diagnosis but she has had compliance problems. Based on these cases, the cognitive deficits in patients with epilepsy with eyelid myoclonia may occur more commonly than what has been thought hitherto. We discuss the role of narrow-spectrum antiepileptic drugs as a contributing factor to poor seizure control and an impaired intelligence.