Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder

Background

Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD.

Methods

We examined patterns of scores from the five subscales of the Social Responsiveness Scale (SRS) in 46 individuals with DS (ages 10–21 years) without comorbid ASD relative to the published normative sample. We also explored the correlations between SRS symptomatology and age, nonverbal cognition, and receptive language.

Results

SRS scores were elevated (i.e., more ASD symptoms endorsed), with mean scores falling into the clinically significant range. Analysis by subscale revealed a specific pattern, with Autistic Mannerisms and Social Cognition scores significantly more elevated than Social Communication scores, which were significantly more elevated than Social Awareness and Social Motivation scores. Correlations between SRS scores and the other measures varied by subscale.

Conclusions

General elevated ASD symptomatology on the SRS indicates the need for developing population-based norms specific to DS. The pattern of scores across subscales should inform clinicians of the typical range of behaviors observed in DS so that individuals with atypical patterns of behavior can be more easily identified and considered for a full ASD evaluation.     

Behaviour problems and adults with Down syndrome: childhood risk factors

Background Studies of people with intellectual disability suggest that several individual characteristics and environmental factors are associated with behaviour disorder. To date there are few studies looking at risk factors within specific syndromes and the relationship between early risk markers and later behaviour disorder. The key aim of the study was to determine if childhood risk factors were predictors of severe behaviour disorder in young adults with Down syndrome. Materials and methods A longitudinal cohort study of 50 people with Down syndrome was assessed with the same behavioural measure used in both childhood and adult life. The early risk factors which were assessed included childhood functioning, childhood psychopathology and early family environment as determined by measures of parental mental health, quality of parental marriage and social background. Results Childhood psychopathology and functioning were associated with severe behaviour disorder in adult life whereas childhood family environment was not. Conclusions Children with Down syndrome at risk for severe behaviour disorder in adult life may be identified in childhood and appropriate interventions offered to reduce their risk.     

Processing of facial expressions of emotions by adults with Down syndrome and moderate intellectual disability

The processing of facial expressions of emotions by 23 adults with Down syndrome and moderate intellectual disability was compared with that of adults with intellectual disability of other etiologies (24 matched in cognitive level and 26 with mild intellectual disability). Each participant performed 4 tasks of the Florida Affect Battery and an original task in which they had to match facial expressions after observing the complete face or one of its halves. Adults with Down syndrome did not show any specific difficulties in recognizing facial expressions in spite of showing a poorer discrimination between facial expressions and tended to take more notice of the lower half of the face.     

Factors predicting mortality in midlife adults with and without Down syndrome living with family

Background Little is known about the mortality of individuals with Down syndrome who have lived at home with their families throughout their lives. The current study evaluates the predictors, causes and patterns of mortality among co‐residing individuals in midlife with Down syndrome as compared with co‐residing individuals with ID owing to other causes. Method This paper examines mortality in 169 individuals with and 292 individuals without Down syndrome from 1988 to 2007. Dates and causes of death were obtained from maternal report, the Social Security Death Index and the National Death Index. Risk factors predicting mortality, including demographic variables, transition variables, and initial and change measures of health, functional abilities and behaviour problems, were obtained from maternal report. Results Having Down syndrome is a risk factor of mortality, net of other risk factors including older age, poorer functional abilities, worsening behaviour problems, residential relocation and parental death. The causes of death among individuals with and without Down syndrome who are in midlife and co‐residing with their families are similar, and are most commonly due to cardiovascular or respiratory problems. Conclusions The findings indicate that midlife adults with Down syndrome who co‐reside with their families generally exhibit similar causes of mortality as do midlife adults with intellectual disability owing to other causes, but show an elevated risk of mortality in midlife net of other variables, such as age and changes in functional abilities and behaviour problems.     

The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome

Background

An important developmental task is to learn to recognize another person as a source of information and to utilize this information as a method of learning about the surrounding world. This socially guided form of learning, referred to as social referencing, is critical for the development of children’s understanding of other people, themselves and their surrounding world. In the present project, the regulatory function of social referencing was examined in two genetic disorders that are characterized by differing patterns of socio-cognitive development: Down syndrome (DS) and Williams syndrome (WS).

Methods

Participants were 20 children with DS and 20 children with WS aged 42 to 71 months, matched on chronological age and gender. Each child participated in four studies: one study in which we examined performance in a social referencing paradigm and three studies in which we considered performance on tasks designed to tap each of three component abilities (initiating eye contact, gaze following and emotional responsivity) important for success in social referencing.

Results

The majority of children in both groups demonstrated positive behavioral responses regarding the stimulus in the Social Referencing task when the adult communicated a joyful message but did not regulate their own behavior in accordance with the adult’s expression of fear. Between-group differences were observed in both conditions, with most differences indicating more advanced socio-communicative competence for children with DS than for children with WS even though the overall intellectual abilities and receptive language abilities of the children with WS were significantly higher than were those of the children with DS. The results of follow-up studies indicated that children with DS were more likely to initiate eye contact (unsolicited) and to follow another person’s gaze in triadic situations than were children with WS. Neither group regulated their behavior in response to expressions of fear.

Conclusions

These findings provide new insight into the development of the social cognitive phenotypes associated with DS and WS. These social cognitive differences found during the preschool years likely contribute to the differing phenotypes observed later in life between individuals with DS and individuals with WS.     

From facial emotional recognition abilities to emotional attribution: A study in Down syndrome

Facial expression processing and the attribution of facial emotions to a context were investigated in adults with Down syndrome (DS) in two experiments. Their performances were compared with those of a child control group matched for receptive vocabulary. The ability to process faces without emotional content was controlled for, and no differences appeared between the two groups. Specific impairments were found in the DS group according to the task modalities and the type of facial emotional expressions. In the emotion matching condition, the DS adults showed overall difficulties whereas in the identification and recognition conditions they were particularly impaired when processing the neutral expression. In the emotion attribution task, they exhibited difficulties with the sad expression only and the analysis of their error pattern revealed that they rarely selected this expression throughout the task. The sad emotion was the only one that showed a significant relationship with the facial expression processing tasks.     

Solving the Raven Progressive Matrices by adults with intellectual disability with/without Down syndrome: different cognitive patterns as indicated by eye-movements

Raven matrices are used for assessing fluid intelligence and the intellectual level of groups with low intelligence. Our study addresses qualitative analysis of information processing in Raven matrices performance among individuals with intellectual disability with that of their typically developed (TD) counterparts. Twenty-three adults with non-specific intellectual disability (NSID), 15 adults with Down syndrome (DS) and 35 children with TD matched for mental age, participated. Participants solved the Raven's Colored Progressive Matrices and five items from the Raven Standard Progressive Matrices while having their eye movements monitored. The overall percent of correct answers was significantly higher for the TD group compared to two ID group. Comparison of the eye movement pattern of each group indicated that the TD group spent more time on the matrices before shifting to the options, than the two ID groups. The TD group made significantly less switches from one rejoins to another, than the ID groups. The difference in the scanning pattern between the TD and the ID groups is interpreted as a reflection of two different types of strategies, Constructive matching and Response elimination, respectively. There were no differences in eye scanning between participants with NSID and those with DS.     

Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder

Background   Little is known about behavioural flexibility in children and adults with Angelman syndrome and whether people with this syndrome have more or less problems in being behaviourally flexible as compared with other people.
Method   Behavioural flexibility scores were assessed in 129 individuals with Angelman syndrome using 11 items from the Behavioural Flexibility Rating Scale-Revised ( Green et al. 2007 ). Level of behavioural flexibility scores in individuals with Angelman syndrome ( N  = 129) was compared with that of people with non-specific intellectual disability (ID) ( N  = 90), Down syndrome ( N  = 398) and Autism spectrum disorder ( N  = 235).
Results   Comparative analyses show that individuals with Angelman syndrome were more flexible than those with non-specific ID ( P  < 0.001) and those with Autism spectrum disorder ( P  < 0.01). There were no differences in behavioural flexibility scores between individuals with Angelman syndrome and those with Down syndrome ( P  = 0.94).
Conclusion   It is concluded that individuals with Angelman syndrome are comparatively flexible in their behaviour.     

Cost of hospitalization and length of stay in people with Down syndrome: evidence from a national hospital discharge claims database

The present paper aims to describe the hospitalization profiles which include medical expenses and length of stays, and to determine their possible influencing factors of hospital admission on persons with Down syndrome in Taiwan. We employed a population-based, retrospective analyses used national health insurance hospital discharge data of the year 2005 in this study. Subject inclusion criteria included residents of Taiwan, and diagnosed with Down syndrome (ICD code is 758.0; N = 375). Inpatient records included personal characteristics, admissions, length of stay, and medical expenses of study subjects. The results found that Down syndrome patients used 2 hospital admissions and their annual length of stay in hospital was 22.26 days, and the mean medical cost of admissions was 143,257 NT$. The admission figures show that Down syndrome individuals used two times of hospital days and nearly three times of medical expenses comparing to the general population in Taiwan. Finally, the multiple regression models revealed that factors of age, hold a serious illness card, low income family member, frequency of hospital admission, high medical expense user were more likely to use longer inpatient days (R² = 0.36). Annual inpatient expense of people with Down syndrome was significantly affected by factors of severe illness card holder, low income family member, frequency of hospital admission and longer hospital stays (R² = 0.288). Based on these findings, we suggest the further study should focus on the effects of medical problems among persons with Down syndrome admitted for hospital care is needed.     

The use of sand tray techniques by school counsellors to assist children with emotional and behavioural problems

This article addresses the question of how school counsellors experienced the use of sand tray techniques in assisting children with emotional and behavioural problems at a primary school in Gauteng, South Africa. A phenomenological research design was used to investigate and document the experiences of 12 school counsellors that were using sand tray techniques with 37 primary school children between the ages of 6 and 14 years, with emotional and behavioural problems. The data was collected by means of 23 individual interviews, a focus group interview and 34 observation sessions. The findings identified several factors that influenced the responses of the school counsellors to these techniques. These included the sand trays themselves, the sand tray symbols, certain administrative aspects, the diversity of emotional problems encountered, the differing therapeutic approaches utilized by the counsellors, the cultural orientation and socioeconomic status of the children, and counsellors, language barriers, and an understanding of the stages of the sand tray process. What stood out in the research was the need for training in using sand tray techniques in a counselling context.     

Diagnosing Alzheimer's dementia in Down syndrome: Problems and possible solutions

It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and methodological procedures used in the field and the difficulty in obtaining baseline levels of cognitive functioning in this population with which to assess cognitive and behavioral change. Recent researchers have begun to suggest ways around these difficulties. This review explores these recent developments and provides recommendations which may aid clinicians in their attempts to diagnose Alzheimer's dementia in the early stages in the Down syndrome population.     

Parental report of sleep problems in Down syndrome

Background Children with Down syndrome (DS) suffer from sleep problems, including sleep maintenance problems, as well as snoring, and other symptoms of disordered breathing. To examine sleep in DS, we gave parents a questionnaire assessing their child's sleep. Materials and methods The parents of 35 children with DS (mean age = 12.65 years, range = 7–18 years) completed the 33‐item Children's Sleep Habits Questionnaire. Results Eighty‐five per cent of our sample had sleep disturbance scores in the clinical range (mean = 48.63, SD = 7.15, range = 34–64). Our sample also had significantly elevated scores on the Bedtime Resistance, Sleep Anxiety, Night Wakings, Parasomnias, Sleep Disordered Breathing and Daytime Sleepiness subscales. Conclusions Children with DS are at risk for developing symptoms of sleep disordered breathing, and may have additional sleep problems that are unrelated to sleep disordered breathing.     

Magnetoencephalographic analysis of cortical activity in adults with and without Down syndrome

Background This preliminary study served as a pilot for an ongoing analysis of spectral power in adults with Down syndrome (DS) using a 151 channel whole head magnetoencephalography (MEG). The present study is the first step for examining and comparing cortical responses during spontaneous and task related activity in DS. Method Cortical responses were recorded with a 151 channel whole head MEG system in three adults with DS and three age‐matched adults without DS. MEG data were obtained at rest with eyes open and during observation of point‐light displays of human motion and object motion. Data from both groups were evaluated by spectral analysis. Results The preliminary results showed greater alpha (8–14 Hz) power particularly in the occipital and parietal areas during the eyes open condition in the adults with DS in relation to a normal comparison group. The visual task had little effect on alpha power in the comparison group. Engaging in the visual task reduced power in alpha across all regions in the DS group to the level observed in comparisons. In the gamma band (30–50 Hz), power values were similar across both groups for the eyes open condition. In the comparison group, large reductions in gamma were observed in the occipital and bilateral temporal areas during the visual task. This change was not observed in the DS group. Conclusions The results from this pilot study suggest that MEG may be useful in characterizing task‐specific changes in cortical activity in individuals with DS. Future studies with a larger group of individuals will further contribute to our understanding of the neurophysiology of Down syndrome.     

Health care in adults with Down syndrome: a longitudinal cohort study

Background Individuals with Down syndrome increasingly survive into adulthood, yet little is known about their healthcare patterns as adults. Our study sought to characterise patterns of health care among adults with Down syndrome based on whether they had fully transitioned to adult‐oriented providers by their inception in this cohort. Methods In this retrospective observational cohort study, healthcare utilisation and annualised patient charges were evaluated in patients with Down syndrome aged 18–45 years who received care in a single academic health centre from 2000 to 2008. Comparisons were made based on patients' provider mix (only adult‐focused or ‘mixed’ child‐ and adult‐focused providers). Results The cohort included 205 patients with median index age = 28 years; 52% of these adult patients had incompletely transitioned to adult providers and received components of their care from child‐focused providers. A higher proportion of these ‘mixed’ patients were seen exclusively by subspecialty providers (mixed = 81%, adult = 46%, P < 0.001), suggesting a need for higher intensity specialised services. Patients in the mixed provider group incurred higher annualised charges in analyses adjusted for age, mortality, total annualised encounters, and number of subspecialty disciplines accessed. These differences were most pronounced when stratified by whether patients were hospitalised during the study period (e.g. difference in adjusted means between mixed versus adult provider groups: $571 without hospitalisation, $19 061 with hospitalisation). Conclusions In this unique longitudinal cohort of over 200 adults aged 18–45 years with Down syndrome, over half demonstrated incomplete transition to adult care. Persistent use of child‐focused care, often with a subspecialty emphasis, has implications for healthcare charges. Future studies must identify reasons for distinct care patterns, examine their relationship with clinical outcomes, and evaluate which provider types deliver the highest quality care for adults with Down syndrome and a wide variety of comorbidities.     

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.     

Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities

Background

Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with intellectual disabilities. Yet adolescence and young adulthood are particularly vulnerable time periods, as they involve multiple life transitions in educational, medical, and other service systems.

Methods

This study compared the psychiatric diagnoses of 49 adolescent and young adult patients with Down syndrome to 70 patients with other intellectual disabilities (IDs). The groups were similar in age, gender, and level of intellectual impairment. The 119 participants, aged 13 to 29 years (M = 21) were evaluated in one of two specialized psychiatric clinics.

Results

In contrast to previous literature, those with Down syndrome versus other IDs had significantly higher rates of psychosis NOS or depression with psychotic features (43% versus 13%). Unlike the ID group, psychosis was predominantly seen in females with Down syndrome. Marked motoric slowing in performing routine daily activities or in expressive language was manifested in 17% of patients with Down syndrome. No group differences were found in anxiety or depressive disorders, and the ID group had significantly higher rates of bipolar and impulse control disorders.

Conclusions

These preliminary observations warrant further studies on genetic, neurological, and psychosocial factors that place some young people with Down syndrome or other IDs at high risk for severe psychiatric illness.