Medicine use in people with intellectual disabilities: a Finnish nationwide register study.

BACKGROUND: People with intellectual disability (ID) are a vulnerable group in our society; many of them depend on other people for assistance in their everyday lives. Compared with the general population, people with ID have poorer general health and, therefore, need more healthcare services and use more medicines. The aim of this study is to define the population of all Finnish people with ID using administrative data and to compare their medicine use and expenditure on medicines to those of the age-matched and sex-matched controls. METHODS: People with ID and their age-matched and sex-matched controls (1:1) were extracted from nationwide healthcare and social allowance registers. Administrative register data on all prescription medicine purchases in 2019 were used to determine the prevalence of medicine use in both groups on a general level and by medicine categories. The differences in the prevalence of medicine use between the two groups were analysed using the logistic regression model. In addition, we studied the total expenditure on reimbursable medicine purchases covered by the National Health Insurance between people with ID and control group. RESULTS: The subpopulation of people with ID consisted 37 196 individuals, of whom 82.7% purchased prescription medicines in 2019. The corresponding share of individuals purchasing prescription medicines in the control group was 70.3%. The differences in the prevalence of medicine use between the two populations were highest in the younger age groups (0-6, 7-12 and 13-17). In the study population, 28.1% (OR = 12.28; 95% CI: 11.54-13.07) of the people used antipsychotics, making it the most used medicine category in people with ID. In the control group, 3.3% of people used antipsychotics. Compared with the control group, the use of antiepileptics, drugs for constipation, mineral supplements and anxiolytics was four to seven times higher among people with ID. Furthermore, the median expenditure on medicine use among people with ID was four times higher than in the control group. CONCLUSIONS: Compared with the control group, people with ID used more medicines, especially psychotropics, and their expenditure on medicine use was higher.

Down syndrome in adults: a 27-year follow-up of adaptive skills.

In 1988, we assessed the adaptive skills of 45 adults with Down syndrome (DS) (21 women and 24 men, age 20-58) with the Portage scale. Since then, we have followed them and also screened for signs of clinical dementia with the Present Psychiatric State - Learning Disabilities assessment. The mean adaptive age (AA) of the study group decreased with increasing age; the age of 35 being the turning point in the clinical course of DS. The mean AA was 4.4 years between ages 20 and 34, 3.4 years between ages 35 and 49, and 2.4 years between ages 50 and 66. Inter-individual variation was, however, large. Between ages 20 and 25, the AA of the study subjects ranged from 2.3 to 6 years; and after the age of 50, from 0.3 to 4.8 years. By the end of the study, all subjects showed signs of clinical dementia. These appeared most frequently as reduced self-care skills, loss of energy, forgetfulness, and impaired understanding. We found no connection between apolipoprotein E genotype and the clinical course of DS. We recommend follow-up of adaptive skills and screening for dementia signs in adults with DS.

Fragile-X syndrome--a 20-year follow-up study of male patients.

In 1994, a multi-professional team examined clinically 34 males with fragile X syndrome (FXS). Since then, these patients have been clinically evaluated twice at a 10-year interval. With the aid of the Portage method we were able to chart the course of their adaptive skills. The FXS males learned new abilities on average up to the age of 25; this was followed by a plateau stage until they reached 50, after which time, physical symptoms evidencing weakened overall motor skills were apparent. During follow-up, a total of 10 men died, 9 of them suddenly. Of these, three were under the age of 40 at death, and the oldest was 77. The FXS men were socially interactive, helpful, but shy. Typical symptoms of FXS boys such as poor eye contact, tactile defensiveness, and perseverative speech did not disappear with age. At the end of the study, 75% of the study subjects had long-standing health problems. Most aged over 50 suffered from symptoms arising from an enlarged prostate; one fourth were on psychotropic-, and one fifth on antiepileptic drug treatment.

Cardiolipin and ß2-Glycoprotein I antibodies associate with cognitive impairment and seizure frequency in developmental disorders.

Cardiolipin (CL) and ß(2)-Glycoprotein I (ß(2)-GpI) antibodies have been shown to associate with various neurological symptoms including seizures and cognitive dysfunction. Here we studied the prevalence of CL, ß(2)-GpI and antinuclear (ANA) antibodies in 74 patients with various developmental disorders with epilepsy and 70 healthy controls. Developmental disorders were classified into genetic syndromes and diseases, genetic and/or acquired conditions, cortical dysgenesias and acquired encephalopathias. IgM-CL and ß(2)-GpI antibodies were significantly more common in patients (46% vs. 20%, p<0.001 and 10% vs. 0%, p<0.05). Patients with most frequent seizures were more likely to have IgM-CL antibodies. The risk for positive IgM-CL, IgG-CL and ß(2)-GpI antibodies increased concomitantly with increasing intellectual disability. Present data demonstrates that epilepsy with frequently recurring seizures may be associated with secondary immune system activation.

Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability.

BACKGROUND: Adults with intellectual disability (ID) have several risk factors for osteoporosis. Feeding problems with consequent nutritive deficiencies, and lack of sunshine exposure may lead to vitamin D deficiency. The purpose of this study was to evaluate vitamin D status in adults with ID living in nursing homes and to compare two different means to administer vitamin D in adults with ID. METHODS: The study included 138 adults (95 males and 43 females) with ID living in nursing homes of Pääjärvi Inter-Municipal Association. Clinical data on the etiology and severity of ID, other illnesses, medications, anthropometry and fractures during the preceding 5 years were collected from medical records. The participants were alternately allocated to receive vitamin D3 either per orally 800 IU daily for 6 months (PO group, n = 72) or as a single intramuscular injection of 150 000 IU (IM group, n = 66). Blood samples were obtained at baseline and at 6 months for parameters of calcium homeostasis, including serum concentrations of 25-hydroxyvitamin D (S-25-OHD) and parathyroid hormone (P-PTH). RESULTS: At baseline, the mean S-25-OHD was low, 40 nmol/L in the PO group and 41 nmol/L in the IM group. The low vitamin D levels were associated with secondary hyperparathyroidism in 17%. At 6 months the mean S-25-OHD was 82 nmol/L in the PO group (P < 0.001 for the difference from baseline) and 62 nmol/L in the IM group (P < 0.001). P-PTH decreased in both groups: from 51 ng/L to 33 ng/L in the PO group (P < 0.001) and from 54 ng/L to 34 ng/L in the IM group (P < 0.001). With daily dosing (800 IU/day) the recommended level (>80 nmol/L) was attained in 42%, but with intramuscular dose only in 12%. S-25-OHD was >100 nmol/L in 14 participants in the PO group and in one participant in the IM group; these high values were associated with hypercalcemia in two and hyperphosphatemia in six participants. Participants with S-25-OHD >100 nmol/L at 6 months were lighter (51.9 kg vs. 67.5 kg, P = 0.002) and had smaller body mass index than participants with lower S-25-OHD (20.5 kg/m(2) and 24.4 kg/m(2), P = 0.017). CONCLUSIONS: Vitamin D insufficiency was common in adults with ID living in nursing homes. Both oral and intramuscular administrations of vitamin D3 improved vitamin D status without adverse effects. The treatment response at 6 months was better in the PO group. High-dose intramuscular vitamin D3 injections may be a convenient way to maintain sufficient vitamin D status in adults with ID but further studies are needed to establish the optimal dose and interval as well as subsequent potential health benefits in these patients. Based on this study, vitamin D supplementation with per oral 800 IU/day is recommended to all adults with ID living in nursing homes.

Consensus guidelines into the management of epilepsy in adults with an intellectual disability.

BACKGROUND: Epilepsy has a pervasive impact on the lives of people with intellectual disability and their carers. The delivery of high-quality care is impacted on by the complexity and diversity of epilepsy in this population. This article presents the results of a consensus clinical guideline process. RESULTS: A Delphi process identified a list of priority areas for the development of evidence-based guidelines. All guidelines were graded and consensus on scoring was achieved across the guideline group. CONCLUSION: There is a dearth of high-quality evidence from well-constructed studies on which to base guidance. However, the development of internationally derived consensus guidelines may further support the management of epilepsy in adults with an intellectual disability.

Reduction in head size in patients with aspartylglucosaminuria.

OBJECTIVE: To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease. METHOD: The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of these 40, 21 aged 15-47 and 19 young patients aged 5-14 as well as 40 healthy controls underwent lateral cephalometric radiography. RESULTS: During 10 years' follow-up, the HC of 26 (65%) had decreased by 1 to 4.5 cm (mean 1.7, P < 0.001). Evaluation of lateral skull radiographs revealed that patients aged 15 or more had significantly thicker skulls than did younger patients (P = 0.015). Mean intracranial length (glabella-opisthocranium) of the patients aged 15 or more was significantly shorter than in patients aged 14 years or less (P = 0.029). These measurements indicated that brain volume had decreased. CONCLUSIONS: Macrocephalia in childhood followed by reduced brain volume in adulthood is evident in patients with AGU and is reflected by a decrease in head size.

Topiramate in long-term treatment of epilepsy in the intellectually disabled.

BACKGROUND: To study the effectiveness of topiramate (TPM) in refractory epilepsy in patients who have intellectual disability (ID). METHODS: A representative population sample of 57 patients with ID (age range 2-61, mean 32.8) was administered add-on TPM for drug-refractory epilepsy. RESULTS: Seizure freedom for at least for 6 months was attained by 10 (17%), and seizure reduction of > or = 50% by further 26 (46%). Less than 50% decrease in seizure frequency was found in 16 (29%). TPM was more efficacious in localisation-related than in generalised epilepsies (81% vs. 50%, P=0.019). An at least 50% decrease in seizure frequency was achieved by patients with temporal lobe epilepsy in 100%, continuous spike-waves during sleep syndrome in 75%, Lennox-Gastaut syndrome in 52%, and those with infantile spasms in 25% of cases. As great decrease in seizure frequency was found in most patients with cortical dysplasia (83%), acquired encephalopathy with mesial temporal sclerosis (MTS) (75%), and genetic disease associated with MTS (66%). Adverse effects occurred in 10% including two (3%) with seizure aggravation and three (5%) necessitating discontinuation. CONCLUSION: TPM is an effective antiepileptic drug which is of value in treating people with seizures that are resistant to other antiepileptic medication. As a broad-spectrum drug it may substitute for polypharmacy and, at the same time decrease adverse effects and costs of therapy.

De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.

We describe a 22-year-old woman with a de novo paracentric inversion of the long arm of chromosome 14 with breakpoints at q13 and q24 and associated with epilepsy, dysarthria and severe incapacitating involuntary movements present since birth. These movements were incessant when awake but absent when asleep. She had unusual facies with downward slant of palpebral fissures, epicanthi, broad philtral groove, flat malar region, large, cup shaped and low-set ears, and short neck. Her decidual and permanent dentition lacked all premolars and molars. Psychological assessment at ages 6 and 15 years showed mild mental retardation. In spite of the aggravation of the neurological symptoms no decline of mental capacity was observed. A brain MRI was normal at 19 years of age. Early on EEG showed changes compatible with partial epilepsy, and at later stages there was, contrary to expectation, only a mild background slowing. Urinary metabolic screening tests and a search for vacuolated lymphocytes were negative. Previously, four cases with a similar inversion have been described. Of these, three were familial with normal phenotype, and the fourth was de novo with severe mental retardation, microcephaly and involuntary movements. Our case is the second de novo inversion of the long arm of chromosome 14 with breakpoints at q13 and q24. The observations in the two patients suggest that this chromosomal rearrangement is associated with a congenital complex movement disorder.