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Down syndrome (DS), or trisomy 21, is the most common identifiable genetic cause of mental retardation. The syndrome is unique with respect to its cognitive, behavioral, and psychiatric profiles. The well-known cheerful and friendly demeanor often creates a personality stereotype, with parents and observers commenting on the positive attributes. Despite these strengths, approximately 20% to 40% of children with DS have recognized behavioral problems. Such problems persist through adulthood, with a decrease in externalizing symptoms of aggressiveness and attention problems and the emergence of internalizing symptoms of depression and loneliness. In adulthood, the presence of early-onset dementia of the Alzheimer type and cognitive decline may pose a challenge in recognizing these internalizing symptoms. Understanding the age-related changes in cognitive functioning and behavioral profiles in individuals with DS provides insight into clinical and treatment implications.
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PMID:Neuropsychiatric and behavioral aspects of trisomy 21. 1738 25

The number of people over the age of 60 years with lifelong developmental delays is predicted to double by 2030. Down syndrome (DS) is the most frequent chromosomal cause of developmental delays. As the life expectancy of people with DS increases, changes in body function and structure secondary to aging have the potential to lead to activity limitations and participation restrictions for this population. The purpose of this update is to: (1) provide an overview of the common body function and structure changes that occur in adults with DS as they age (thyroid dysfunction, cardiovascular disorders, obesity, musculoskeletal disorders, Alzheimer disease, depression) and (2) apply current research on exercise to the prevention of activity limitations and participation restrictions. As individuals with DS age, a shift in emphasis from disability prevention to the prevention of conditions that lead to activity and participation limitations must occur. Exercise programs appear to have potential to positively affect the overall health of adults with DS, thereby increasing the quality of life and years of healthy life for these individuals.
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PMID:Aging and Down syndrome: implications for physical therapy. 1771 35

Similar to the state of the broader intellectual disabilities field, many gaps exist in the research and treatment of mental health concerns in people with Down syndrome. This review summarizes key findings on the type and prevalence of behavior and emotional problems in children, adolescents, and adults with Down syndrome. Such findings include relatively low rates of severe problems in children, and well-documented risks of depression and Alzheimer's disease in older adults. The review also considers emerging data on autism, and the paucity of studies on adolescents. Three next steps for research are highlighted, including a need to: (1) connect research on psychiatric status and diagnoses across developmental periods, including adolescence, and to examine such associated processes as sociability, anxiety and attention; (2) unravel complicated biopsycho-social risk and protective factors that serve to increase or diminish psychopathology; and (3) identify evidence-based treatments that both reduce distressful symptoms and enhance well-being in individuals with Down syndrome.
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PMID:Psychiatric and behavioral disorders in persons with Down syndrome. 1791 80

Stress, anxiety and depression are raised amongst parents of children with a developmental disorder. However, the processes by which stress leads to depression and anxiety are poorly understood. In a cross-sectional survey, levels of parental stress, depression and anxiety were compared between parents of children with an autistic disorder, children with Down's syndrome and children with no disorder (N = 619) and the mediational role of locus of control was examined. Anxiety and depression were higher in parents of children with a disorder, and highest in parents of children with autism. Locus of control was more external in parents of children with autism. Locus of control failed to mediate the relationship between stress and both anxiety and depression in parents of children with a disorder. This suggests that help for parents of a child with a disorder may be effective if focused on the sources of stress rather than perceived control over events.
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PMID:Locus of control fails to mediate between stress and anxiety and depression in parents of children with a developmental disorder. 1794 86

Down Syndrome (DS) patients suffer from cognitive dysfunction, depression, hyperactivity, irritability etc. Dopamine (DA) and serotonin (5HT) are known to control cognitive and behavioral attributes. An increased number of the DA receptor 4 (DRD4) is detected in brain regions primarily involved in cognition. Impairments in executive function have also been reported with depletion in 5HT. A variable number of tandem repeat (VNTR) in the exon 3 of DRD4 and an insertion/deletion polymorphism in the promoter region of 5HT transporter (5HTTLPR) have been found to be associated with different neurobehavioral disorders; however, association of these polymorphisms with DS has never been explored. The present family-based analysis on DS revealed significant over-transmission of a DRD4 VNTR allele which encodes for D4 receptor with average activity. No association was noticed for the 5HTTLPR. We may conclude that these genetic polymorphisms are not contributing to the neuromotor and cognitive dysfunctions observed in DS.
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PMID:Lack of association between down syndrome and polymorphisms in dopamine receptor D4 and serotonin transporter genes. 1827 Aug 21

Friends play a significant role in mental and physical health; however, individuals with Down syndrome and other developmental disabilities, even those who are included in general education programmes, have not developed friendships as hoped. After a decade of inclusion and structured school programmes to facilitate friendships, many parents report that peer relationships end after school hours. This study compared the efficacy of school based friendship groups with a mixed age home based group. Specific methods to establish a successful friendship group are discussed. This study followed three friendship groups for five years. Two groups of six to eight general education students met with the target student twice a month during the school day; one group of mixed age participants met in the student's home. A counsellor facilitated all the groups. Parent and student concerns regarding friendships were informally assessed with interviews and observations. Observations and interviews confirmed that although peer interactions during school occurred they did not continue after school. Of the three students studied, only one had a relationship with a same-aged peer after four years of school facilitated groups. Two students had significant feelings of depression during high school. One student entered counselling. The home-based mixed age friendship group did result in significant friendships. The individual participated in two or three activities each month with friends from the group. School based friendship groups of adolescent peers were not successful in developing friendships for individuals with Down syndrome. When a multi-age group was conducted outside of the school, friendships formed and have continued for over two years. This article describes how and why parents and professionals should look beyond school based same age peer friendship groups and consider a community circle of mixed-age friends.
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PMID:Special at school but lonely at home: an alternative friendship group for adolescents with Down syndrome. 1902 82

Down syndrome (DS) is a genetic disorder arising from the presence of a third copy of human chromosome 21 (Hsa21). Recently, O'Doherty et al. [An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309 (2005) 2033-2037] generated a trans-species aneuploid mouse line (Tc1) that carries an almost complete Hsa21. The Tc1 mouse is the most complete animal model for DS currently available. Tc1 mice show many features that relate to human DS, including alterations in memory, synaptic plasticity, cerebellar neuronal number, heart development and mandible size. Because motor deficits are one of the most frequently occurring features of DS, we have undertaken a detailed analysis of motor behaviour in cerebellum-dependent learning tasks that require high motor coordination and balance. In addition, basic electrophysiological properties of cerebellar circuitry and synaptic plasticity have been investigated. Our results reveal that, compared with controls, Tc1 mice exhibit a higher spontaneous locomotor activity, a reduced ability to habituate to their environments, a different gait and major deficits on several measures of motor coordination and balance in the rota rod and static rod tests. Moreover, cerebellar long-term depression is essentially normal in Tc1 mice, with only a slight difference in time course. Our observations provide further evidence that support the validity of the Tc1 mouse as a model for DS, which will help us to provide insights into the causal factors responsible for motor deficits observed in persons with DS.
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PMID:Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. 1918 82

Sleep disordered breathing (SDB) is increasingly being recognised as a cause of morbidity even in young children. With an estimated prevalence of 1 to 4 per cent, SDB results from having a structurally narrow airway combined with reduced neuromuscular tone and increased airway collapsibility. SDB in children differs from adults in a number of ways, including presenting symptoms and treatment. Presentation may differ according to the age of the child. Children have a more varied presentation from snoring and frequent arousals to enuresis to hyperactivity. Those with Down syndrome, midface hypoplasia or neuromuscular disorders are at higher risk for developing SDB. First line definitive treatment in children involves tonsillectomy and adenoidectomy. Rapid maxillary expansion, allergy treatment and continuous positive airway pressure (CPAP) are other options. As untreated SDB results in complications as learning difficulties, memory loss and a long term increase in risk of hypertension, depression and poor growth, it is important to diagnose SDB.
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PMID:Sleep disordered breathing in children. 2030 56

PEP-19/PCP4 maps within the Down syndrome critical region and encodes a small, predominantly neuronal, IQ motif protein. Pep-19 binds calmodulin and inhibits calmodulin-dependent signaling, which is critical for synaptic function, and therefore alterations in Pep-19 levels may affect synaptic plasticity and behavior. To investigate its possible role, we generated and characterized pep-19/pcp4-null mice. Synaptic plasticity at excitatory synapses of cerebellar Purkinje cells, which express the highest levels of Pep-19, was dramatically altered in pep-19/pcp4-null mice. Instead of long-term depression, pep-19/pcp4-null mice exhibited long-term potentiation at parallel fiber-Purkinje cell synapses. The mutant mice have a marked deficit in their ability to learn a locomotor task, as measured by improved performance upon repeated testing on an accelerating rotarod. Thus, our data indicate that pep-19/pcp4 is a critical determinant of synaptic plasticity in cerebellum and locomotor learning.
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PMID:Impaired locomotor learning and altered cerebellar synaptic plasticity in pep-19/PCP4-null mice. 2157 65

Physical activity has established mental and physical health benefits, but related adverse events have not received attention. The purpose of this paper was to review the documented adverse events occurring from physical activity participation among individuals with psychological or cognitive conditions. Literature was identified through electronic database (e.g., MEDLINE, psychINFO) searching. Studies were eligible if they described a published paper examining the effect of changes on physical activity behaviour, included a diagnosed population with a cognitive or psychological disorder, and reported on the presence or absence of adverse events. Quality of included studies was assessed, and the analyses examined the overall evidence by available subcategories. Forty trials passed the eligibility criteria; these were grouped (not mutually exclusively) by dementia (n = 5), depression (n = 10), anxiety disorders (n = 12), eating disorders (n = 4), psychotic disorders (n = 4), and intellectual disability (n = 15). All studies displayed a possible risk of bias, ranging from moderate to high. The results showed a relatively low prevalence of adverse events. Populations with dementia, psychological disorders, or intellectual disability do not report considerable or consequential adverse events from physical activity independent of associated comorbidities. The one exception to these findings may be Down syndrome populations with atlantoaxial instability; in these cases, additional caution may be required during screening for physical activity. This review, however, highlights the relative paucity of the reported presence or absence of adverse events, and finds that many studies are at high risk of bias toward reporting naturally occurring adverse events.
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PMID:Evidence-based risk assessment and recommendations for physical activity clearance: cognitive and psychological conditions. 2180 Sep 39


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