Costs and benefits of alternative rehabilitation models

Adaptive behavior skills of 2,144 adults with Down syndrome aged 20–69 years were compared to those of a matched group of 4,172 developmentally disabled people without Down syndrome. Adaptive competence in eight skill domains was examined as a function of etiology, age-group and level of mental retardation. In all behavioural domains, and at all levels of mental retardation, individuals with Down syndrome displayed significantly more age-related deficits than did age-matched controls. In individuals with Down syndrome, substantial age-related deficits in adaptive competence were observed after 49 years of age and were most pronounced after 59 years of age. Our findings support previous suggestions of increased risk for Alzheimer disease among adults with Down syndrome. However, Alzheimer neuropathology is found in people with Down syndrome by 40 years of age; signs of regression in adaptive behavior occur 10–15 years after the presumed onset of pathological processes. These results may suggest that the processes underlying dementia in individuals with Down syndrome can have an extremely prolonged course.     

Age of onset and duration of dementia in people with down syndrome: Integration of 98 reported cases in the literature

The published case reports of 98 people with Down Syndrome were studied with respect to the age of onset and duration of clinically diagnosed dementia. The incidence of dementia was unimodal, increasing rapidly from 40 years to a peak of 30% incidence in the fifth decade of life, followed by a further rapid decline. Females with Down syndrome had an earlier onset. Duration of dementia decreased with increasing age of onset for both males and females.     

Premature regression of adults with Down syndrome

Adaptive skills of 2,144 individuals with Down syndrome were compared to a similar group of 4,172 developmentally disabled people without Down syndrome. Activities of daily living and cognitive skills were examined across etiology, age group, and level of mental retardation. For individuals with Down syndrome at all levels of retardation, adaptive competence declined with increasing age to a greater extent than for retarded control subjects. Clear age-related deficits associated with Down syndrome were observed only in people older than 50 years of age. Findings support previous evidence of an increased risk for the clinical signs of Alzheimer's disease among people with Down syndrome; however, signs of dementia appeared later in life than would be predicted from available neuropathological data.     

Demographic characteristics, health conditions, and residential service use in adults with Down syndrome in 25 U.S. states

This study describes service users with Down syndrome (N = 1,199) and a comparative sample with intellectual and developmental disabilities but not Down syndrome (N = 11,182), drawn from National Core Indicator surveys of adult service users in 25 U.S. states. Individuals with Down syndrome were younger than were individuals without Down syndrome. Men with Down syndrome were older than women with Down syndrome, whereas the reverse was true of the individuals without Down syndrome. Most (68%) people with Down syndrome had mild or moderate intellectual disability. The prevalence of vision impairment, hearing impairment, and physical disability increased with age. Adults with Down syndrome were more likely to have Alzheimer's dementia, have a hearing impairment, or be overweight, but they were less likely to have a physical disability than those without Down syndrome. Adults with Down syndrome were less likely to live in institutions or their own home, but they more likely to live in a family member's home. The results of a logistic regression showed that participants were more likely to be reported to be overweight if they had Down syndrome, were female, and were physically inactive, but they were less likely to be reported to be overweight if they were older, had more severe intellectual disability, had cerebral palsy, or were not independently mobile.     

A comparison between older persons with down syndrome and a control group: clinical characteristics, functional status and sensorimotor function

The increase in life expectancy within the general population has resulted in an increasing number of elderly adults with intellectual disability, and this is reflected in the increased life expectancy in persons with Down syndrome, currently about 56 years. The aim of this study was to study the clinical characteristics, the functional status and sensori-motor function of 10 older persons with Down syndrome (mean age 59 years), 13 younger persons with Down syndrome (mean age 44 years) and compare them with 38 adults with intellectual disability without Down syndrome and a control group of people without intellectual disability. All the persons with Down syndrome and intellectual disability resided in two residential living centres in Israel, while the 31 older persons without intellectual disability (mean age 75 years), who served as the control group, lived in an independent living facility. The study considered demographic data, medical backgrounds, physical and functional tests. The results showed that the older persons with Down syndrome in the study were more obese, shorter and had more medical problems than both the older persons with intellectual disability and the control group. The functional performance of the older adults with Down syndrome was more impaired in comparison with both other groups. It is postulated that their slower responses may be explained by a less physically active lifestyle, that may accelerate the onset of disease, resulting in symptoms associated with aging that are detrimental to health.     

Obesity in adults with Down syndrome: a case–control study

Background Obesity has a negative impact upon mortality and morbidity. Studies report that obesity is more prevalent in individuals with Down syndrome than individuals with intellectual disabilities (ID) not associated with Down syndrome. However, there have been no studies using a methodology of matched comparison groups and findings from previous studies are contradictory. Methods A detailed method was used to identify all adults with ID in Leicestershire. Individuals were invited to participate in a medical examination – that included measurement of their height and weight, from which body mass index (BMI) was calculated. For each person with Down syndrome, an individual matched for gender, age and accommodation type was identified, from the Leicestershire ID database. Results The data for 247 matched pairs is reported. Women with Down syndrome had lower mean height and weight, but greater mean BMI than the matched pairs. Men with Down syndrome had a lower mean height and weight but there was no statistical difference in BMI compared to the matched pairs. Using World Health Organization categories of BMI, women with Down syndrome were more likely to be overweight or obese than their matched pairs (odds ratio = 2.17). Men with Down syndrome were more likely to be in the overweight category than their matched pairs but were less likely to be obese (odds ratio = 0.85). Conclusions This study demonstrates that, compared to a matched sample, there is a greater prevalence of obesity amongst women with Down syndrome but not men. As the impact on the health of people with Down syndrome of being overweight or obese is uncertain, this is an area that requires further study.     

Serum lymphocytotoxins and lymphocyte responses to mitogens of Down syndrome person

Lymphocyte responses to phytohemagglutinin P (PHA), concanavalin A (Con A), and pokeweed mitogen (PWM) and incidence of serum lymphocytotoxins in 20 Down syndrome persons were investigated. There was no change in lymphocyte blastogenesis to mitogens in younger Down syndrome individuals (less than 30 years of age) as compared to control persons. The lymphocytes of Down syndrome subjects over 30 years of age showed significantly decreased responses to PHA, Con A, and PWM. Results suggest that with increasing age, Down syndrome persons seem to have an impairment in lymphocyte function. Serum lymphocytotoxins that were not related to age occurred in 4 of the Down syndrome subjects (20 percent). There was no correlation between the presence of lymphocytotoxins and lymphocyte blastogenesis in these subjects.     

Language and verbal short-term memory skills in children with Down syndrome: a meta-analytic review

This study presents a meta-analytic review of language and verbal short-term memory skills in children with Down syndrome. The study examines the profile of strengths and weaknesses in children with Down syndrome compared to typically developing children matched for nonverbal mental age. The findings show that children with Down syndrome have broad language deficits (that are not restricted to measures of expressive language) and associated verbal short-term memory deficits. The profile of language skills in children with Down syndrome shows similarities to that seen in children with Specific Language Impairment. The practical and theoretical implications of these findings are discussed.     

Parents' reports of young people with Down syndrome talking out loud to themselves

Despite parental concerns about young people with Down syndrome talking out loud to themselves (using private speech), there is virtually no research literature on this behavior. In that which exists, investigators have largely interpreted the behavior within a pathological framework. An alternative perspective is that self-talk is developmentally appropriate for these young people. Parents of 78 young people with Down syndrome, age 17 to 24 years, were asked whether their offspring had ever used private speech. Results confirm the universality of private speech and its developmental pattern. No association was found between private speech and behavior problems, communication difficulties, or social isolation. Talking out loud to self by young people with Down syndrome should be seen as adaptive, and not an indication of pathology.     

Incidence and temporal patterns of adaptive behavior change in adults with mental retardation

The age-associated incidence of significant decline in adaptive behavior and the temporal pattern of decline in specific functional skill domains were examined in 646 adults with mental retardation through 88 years of age. Cumulative incidence of significant decline for adults with Down syndrome increased from less than.04 at age 50 to.67 by age 72, whereas cumulative incidence of significant decline for adults with mental retardation without Down syndrome increased from less than.02 at age 50 to.52 at age 88. Among adults experiencing overall decline, four clusters of behaviors were identified based upon the sequence and magnitude of changes, suggesting a pattern of loss not unlike that noted in the population without mental retardation with dementia.     

Drawings by individuals with Williams syndrome: are people different from shapes?

Because it is unclear whether people with Williams syndrome produce drawings that are delayed or deviant, we examined these two possibilities in Draw a Person and figure copying tasks (VMI) in 28 persons with Williams syndrome, 28 with mixed etiologies, and 28 with Down syndrome. All human figures could be classified into discrete stages of drawing development, and in all groups, drawing tasks were significantly correlated with MA. Human figures from participants with Williams syndrome were no more deviant than their counterparts, nor did they show "local-global" differences. Draw a Person scores exceeded VMI scores in the Williams syndrome group, whereas the Down syndrome group showed relative strengths on both drawing tasks, and the mixed group had no profile. Developmental and phenotypic implications of findings are discussed.     

Cancer incidence in persons with Down syndrome in Israel

The purpose of this study was to assess the incidence rates of leukaemia and other malignancies in persons with Down syndrome in Israel. The target population consisted of all persons with Down syndrome in the period of 1948-1995 and the study population was divided into two subgroups: (1) Persons born in Israel between 1979-95 (registry group) and (2) Persons currently or past-institutionalised, born before 1979 (institution group). The study population was linked to the Cancer Registry and cases that had been diagnosed through December 1995 were subsequently identified. The observed incidence rates were compared to expected rates in the general population. Standardised Incidence Ratios (SIR) and 95% confidence intervals were computed for each disease category. Analyses of results were performed separately for each subgroup of our study population. In the registry group seven cancer cases were observed as compared to 1.5 expected (SIR = 4.67 95% CI 1.9-9.6), all of which were leukaemia cases. For the institution group a total of 17 cancer cases were observed compared to 12.8 expected. These included four cases of leukaemia (SIR = 6.90 95% CI 1.9-17.7). An excess of gastric cancer in males, based on two cases (SIR = 11.9 95% CI 1.3-42.9) was also observed. The significant excess of leukaemia in the Down syndrome population in Israel is in accordance with other international studies. The excess of gastric cancer in males with Down syndrome, which has not been reported before, should be further explored.     

Cancer Incidence in Patients With Schizophrenia or Bipolar Disorder: A Nationwide Population-Based Study in Taiwan, 1997–2009

Background: Both genetic and environmental factors have been reasoned for cancer development in schizophrenia patients. However, the influence of age of onset and duration of schizophrenia on cancer incidence has rarely been emphasized. Besides, bipolar disorder tends to resemble schizophrenia from the perspective of multiple rare mutations. Comparing pattern and risk of cancers between schizophrenia and bipolar patients is illuminating. Methods: This study used the Taiwan National Health Insurance Database. A total of 71 317 schizophrenia and 20 567 bipolar disorder patients from 1997 to 2009 were enrolled. Both cohorts were followed up for cancer during the same period by record linkage with the cancer certification in Taiwan. Age and gender standardized incidence ratios (SIRs) of overall and site-specific cancers were calculated. Results: The SIR for all cancers was 1.17 for the schizophrenia cohort. Increased cancer risk (SIR: 1.31, 95% CI: 1.17–1.48) was observed in females but not males. For the bipolar disorder cohort, the SIR for all cancers was 1.29, but the excess risk was found in males (SIR: 1.42, 95% CI: 1.14–1.77) and not females. Cancer risk decreases as the duration and age of onset of schizophrenia increases. If schizophrenia is diagnosed before 50, the SIRs for colorectal, breast, cervical, and uterine cancers increase but if diagnosed after 50, the SIRs for all cancers decrease except for breast cancer. In bipolar disorder, the SIRs for all site-specific cancers were insignificant. Conclusions: Among schizophrenia patients, overall cancer risk varies inversely with age at diagnosis and disease duration. Besides, gender-specific cancer risks differ between schizophrenia and bipolar disorder.     

Mental rotation abilities in individuals with Down syndrome--a pilot study

This pilot study was designed to examine mental rotation ability in individuals with Down syndrome. 7 individuals with Down syndrome (mean mental age = 8.18 +/- 2.73 years; mean chronological age = 29.8 +/- 5.4 years) and a group of 9 typically developing children, matched for mental age, (mean mental age = 8.40 +/- 1.73 years; mean chronological age = 7.2 +/- 1.2 years) were given a version of Cooper and Shepherd's (1973) mental rotation paradigm. On each trial, participants viewed a symbol representing an upper case 'F' or a mirror image of an 'F'. The symbol was presented at one of eight different orientations. The participant's task was to determine whether the letter was reversed or non-reversed. Interestingly, both groups showed similar trends in increased reaction times with increasing angular disparity, suggesting that both groups were performing mental rotations. There was no significant difference in reaction time between the typically developing and Down syndrome groups, however, the Down syndrome group made significantly more errors than the typically developing group. Participants with Down syndrome were able to carry out the mental rotations at well above chance level and mental rotation ability was shown to correlate with mental age.     

Reliability of diagnosing clinical hypothyroidism in adults with Down syndrome

Although thyroid dysfunction is associated with Down syndrome, the clinical manifestation of the dysfunction has not been fully researched. This study investigated the accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome on clinical findings alone. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening for thyroid dysfunction in people with Down syndrome is recommended.     

Risk factors for dementia in people with down syndrome: issues in assessment and diagnosis

It has been clearly established that there is an increased incidence of early onset dementia of the Alzheimer type (DAT) in people who have Down syndrome. There are variations in the age of onset of the clinical signs of DAT, which may be accounted for by different risk factors. In this review we examined the evidence that different biological and psychological factors may influence the risk for DAT. Limitations in design of early studies, the need for consistent diagnostic criteria for DAT in individuals with Down syndrome, and the lack of adequate psychometric tools to detect cognitive change are highlighted. Implications for research and clinical practice are considered in order to assess potential risk factors.     

Cancer incidence among people with intellectual disability

The aim of the present study was to address the unresolved question of the risk of neoplasms among people with intellectual disability (ID). A total of 2173 individuals with ID from a large, representative, nation‐wide population study conducted in Finland in 1962 were followed‐up for cancer incidence between 1967 and 1997. Standardized incidence ratios (SIRs) were defined as ratios of observed to expected numbers of cancer cases. Expected rates were based on national incidence rates. The observed number of cancers in the cohort (173) was close to what was expected [SIR = 0.9, 95% confidence interval (95% CI) = 0.8–1.0]. There was a significantly reduced risk of cancers of the prostate (SIR = 0.2, 95% CI = 0.0–0.5), urinary tract (SIR = 0.3, 95% CI = 0.1–0.7) and lung (SIR = 0.6, 95% CI = 0.4–1.0). The risk was increased in cancers of the gallbladder (SIR = 2.8, 95% CI = 1.1–5.8) and thyroid gland (SIR = 2.1, 95% CI = 1.0–4.8). The risks of lung and gallbladder cancer were lowest and highest, respectively, in those subjects with profound and severe ID, a group who also had significantly elevated SIRs for brain cancer (SIR = 3.46, 95% CI = 1.5–14.4) and testicular cancer (SIR = 9.9, 95% CI = 1.2–35.6). The incidence of cancer among people with ID was comparable with the general population, despite their low prevalence of smoking and apparently decreased diagnostic screening activity. Nevertheless, a few types of cancer carry a higher risk in the population with ID, possibly because of conditions typical among this group, such as gallstones or oesophageal reflux.     

Is the good-imitator-poor-talker profile syndrome-specific in Down syndrome?: evidence from standardised imitation and language measures

The emergence of the Down syndrome (DS) behavioural phenotype during early development may be of great importance for early intervention. The main goal of this study was to investigate the good-imitator-poor-talker developmental profile in DS at preschool age. Twenty children with Down syndrome (DS; mean nonverbal mental age NMA 1 y10 m) and 15 children with non-specific mental retardation (NS-MR; mean NMA 1 y11 m) participated in this study. The Preschool Imitation and Praxis Scale (PIPS) and the Dutch version of the MacArthur-Bates Communicative Development Inventories (N-CDI) were used to determine absolute and relative (contrasted to a nonverbal mental age reference) imitation and language abilities. Results revealed that there was clear evidence for a good-imitator-poor-talker profile in preschoolers with DS. However, only the advanced bodily imitation ability seems to be syndrome-specific. Clinical implications of these findings are considered.     

Mortality in adults with moderate to profound intellectual disability: a population-based study

Background People with intellectual disability (ID) experience a variety of health inequalities compared with the general population including higher mortality rates. This is the first UK population‐based study to measure the extent of excess mortality in people with ID compared with the general population. Method Indirectly standardized all‐cause and disease mortality ratios (SMRs) and exact Poisson confidence intervals were calculated by age and sex for all adults, aged 20 years or over, with moderate to profound ID living in Leicestershire and Rutland, UK, between 1993 and 2005. The general population of Leicestershire and Rutland, which has a population of approximately 700 000 individuals in this age range, was used for comparison. To explore differences within the study population, overall SMRs were also calculated by presence of Down syndrome and last place of residence (city or county). Results Of 2436 adults identified, 409 (17%) died during 23 000 person‐years of follow‐up. Both all‐cause and disease‐specific mortality were around three times higher than the general population but varied considerably with age. The largest differences were observed in people in their twenties, where all‐cause mortality was almost nine times higher in men (SMR = 883; 95% CI = 560–1325) and more than 17 times higher in women (SMR = 1722; 95% CI = 964–2840). At a particular disadvantage were people with Down syndrome and women with ID living in the city. Conclusions The relatively high SMRs observed in young people and in women, particularly those living in inner city areas and with Down syndrome, deserve further investigation for possible explanations, including socio‐economic factors.     

Oesophageal atresia and Down syndrome

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our finding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher than expected and more than reported in other studies where the association was present in 0.5% of cases. Our results confirm that the relationship between Down syndrome and oesophageal atresia is a non random association and the observation of this association in several populations with different genetic backgrounds allows us to conclude that a causal relationship may exist between Down syndrome and oesophageal atresia.