Behavioral phenotype of individuals with Down syndrome

Evidence is reviewed for a developmentally-emerging behavioral phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language production, and auditory short-term memory in infancy and childhood, but fewer adaptive behavior problems than individuals with other cognitive disabilities. Evidence of dementia emerges for up to half the individuals studied after age 50. Research issues affecting control group selection in establishing phenotypic characteristics are discussed, as well as the possible genetic mechanisms underlying variation in general cognitive delay, specific language impairment, and adult dementia. MRDD Research Reviews 2000;6:84-95. Wiley-Liss, Inc.     

Reliability of 16 balance tests in individuals with Down syndrome

To assess test-retest reliability scores on 16 balance tests of 21 individuals with Down syndrome whose ages ranged from 5 to 31 yr., participants performed a standing test on firm and soft surfaces with the eyes open and closed, the balance subset of the Bruininks-Oseretsky test, full turn, timed-up-and-go test, forward reach, and sit-to-stand. Each participant completed all 16 tests twice in one day and then again on a subsequent day for a total of 4 sessions. The interclass reliability correlation coefficients (ICC) value for each measure of balance varied considerably by age and sex. Based on having an ICC > .50, only 3 tests were reliable in young males and young females, whereas 5 tests could reliably be used in adult females and 9 tests could reliably be used in adult males. The results of this study raise suspicions as to the reliability of tests commonly used to assess balance and differences in reliability due to age and sex. Results of balance tests should be interpreted with caution in males and females with Down syndrome across the age span.     

Changes in step variability of new walkers with typical development and with Down syndrome

Models of human gait are based on adult locomotion. C. E. Bauby and A. D. Kuo (2000) proposed that adults rely on passive mechanisms at the spinal level to control motion in the anteroposterior direction and rely on direct monitoring of postural control in the lateral direction. The authors' purpose in this study was to determine if that model applies to control at the onset of walking in typically developing toddlers (n = 9) and in toddlers with Down syndrome (n = 6). Their longitudinal data suggested that toddlers control gait in a distinctly different manner than adults do. An adult pattern of control emerges with experience. In addition, the effect of experience on the emergence of that pattern is magnified by task-specific early intervention. The present data support the emergence and discovery of efficient patterns of control in this fundamental human behavior.     

Measurement of range of motion in individuals with mental retardation and with or without Down syndrome

The purpose of this study was to assess differences in variability of three joints' range of motion in the lower extremity among individuals with Down syndrome, mentally retarded individuals without Down syndrome, and sedentary subjects without mental retardation (ns = 13, 25, and 30, respectively). Range of motion for hip and knee flexion was obtained using a Myrin goniometer. For hip abduction the range of motion was obtained using a double protractor goniometer (Brodin type). Three test repetitions were carried out, and the greatest value was recorded. As no significant differences were found between left and right sides for each motion, the average was used to represent the range of motion. The Down syndrome group had significantly higher mean range of motion in hip flexion than the mentally retarded group. No significant differences in mean range of motion were found between Down syndrome and sedentary groups, but a significant difference was observed between the control and mentally retarded groups. In hip abduction, the Down syndrome group showed significantly higher mean range of motion than the control and mentally retarded groups. The control group had significantly a higher mean range of motion than the mentally retarded group. No significant differences were found in knee flexion between the two mentally disabled groups, but significant differences in mean range of motion were found between each of the two groups of mentally retarded individuals and the control group. Because differences exist in mean range of motion between the two mentally disabled groups, individualized and differentiated training programs to improve flexibility must be designed based on the type of handicap.     

Cognitive status in Down syndrome individuals with sleep disordered breathing deficits (SDB)

Twelve subjects with Down syndrome underwent polysomnographic studies during night sleep and performed the Mini-Mental state test and the Raven Progressive Matrices (RPM), sets A, B, and B(1). Sleep-disordered breathing (SDB) deficits were observed in Down syndrome individuals and their Mini-Mental and RPM scores were extremely low. Regression analysis of the results revealed that the number of apneas per hour was related with the results of the RPM, set A, which were also related with the orientation of Mini-Mental test, indicating that the more apneas an individual has the more difficulties he has in the kind of visuoperceptual skills, including orientation, associated with normal right hemisphere functioning, which are tested by set A of the RPM.     

Linguistic profile of individuals with Down syndrome: comparing the linguistic performance of three developmental disorders.

An increasing number of studies, addressing the linguistic abilities of individuals with Down syndrome (DS) suggest that they exhibit strengths and weaknesses within the linguistic domain. This article critically reviews the literature on the linguistic profile of individuals with DS, with particular emphasis on the expression and reception of vocabulary and grammar, including nonverbal linguistic expression during infant development. In doing so, attention is given to recent comparative studies of the linguistic abilities of individuals with DS, Specific Language Impairment (SLI), and Williams syndrome (WS). The possibility that deficits in one cognitive system may have consequences in another cognitive system, and that these consequences may define the nature of the impairment in each clinical syndrome is further discussed with suggestions for future research.     

Changes in the variability of movement trajectories with practice

We studied variability in movement phase plane trajectories (velocity-position relation) during movement. Human subjects performed 10 degrees and 30 degrees elbow flexion and extension movements in a visual step tracking paradigm. The area of ellipses with radii equal to one standard deviation in position and velocity was taken as a measure of trajectory variability. Trajectory variability was determined at 10-ms intervals throughout movements. Trajectory variability in both the acceleration and deceleration phases of movement decreased with practice. The average trajectory variability during deceleration was greater than that during acceleration even after extended practice (1000 trials). During practice, subjects usually increased movement speed while maintaining end-position accuracy. Trajectory variability was also related to movement speed when equal amounts of practice were given. Short duration (fast) movements had greater trajectory variability than long duration movements. Thus there is a tradeoff between movement speed and trajectory variability similar to the classical speed-accuracy tradeoff. Trajectory variability increased rapidly during the acceleratory phase of movement. The rate of increase was positively related to both movement amplitude and speed. Thus, the forces producing limb acceleration were variable and this variability was more marked in faster and larger movements. In contrast, trajectory variability increased more slowly or actually decreased during the deceleratory phase of movements. Forces involved in limb deceleration thus appeared to compensate to a greater or lesser degree for the variability in accelerative forces. The experiments indicate that the entire trajectory of simple limb movements is controlled by the central nervous system. Variations in accelerative forces may be compensated for by associated variations in decelerative forces. The linkage between accelerative and decelerative forces is progressively refined with practice resulting in decreased variability of the movement trajectory.     

At home with Down syndrome and gender

I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' lives.     

Prehension in young children with Down syndrome

Prehension was examined in 3-year old children with Down syndrome (DS, n = 3) and in typically-developing children matched in chronological age (3-year olds; n = 3) or mental age and motor experience (2-year olds; n = 3). The task required reaching to grasp dowels. Video-based movement analysis yielded temporal and kinematic measures. Children with DS were hypothesized to have deficits in feedback-dependent components of prehension (anticipatory grip-closure and deceleration of reach), whereas feedforward components (reach's acceleration phase; grasp's preshaping) were assumed to be unimpaired [Latash, 1993, Control of human movement, pp. 283-292; Latash, 1994, What is clumsiness? In: Motor Control and Down Syndrome II Proceedings of the second international conference, pp. 68-71]. The findings supported these hypotheses. In comparison to control groups, children with DS had significantly: (a) less time in deceleration of reaching, (b) fewer anticipatory grip-closures, and (c) longer movement times for dowel-lift. Young children with DS appeared to use dowel-contact to decelerate the limb and initiate grip-closure. In contrast, reach-acceleration time and grasp-preshaping did not differ across groups. These findings suggest that children with DS display qualitative differences in motor capabilities rather than simply a delayed rate of typical developmental progression.     

Psychiatric and behavioral disorders in persons with Down syndrome

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.     

Spatial and temporal lightness anchoring

Research in the area of lightness perception has not adequately addressed the influence of previously viewed visual fields on perceived surface reflectance. In the spatial realm, a spot-in-a-void will appear darker when a second surface of higher intensity is placed adjacent to it. The brighter surface takes the role of white, the anchor, and the dimmer is scaled accordingly. We find that when a spot-in-a-void is presented to observers in a light controlled chamber it is influenced by nonretinal temporal relationships mediated by the degree of complexity. We also find that the influence cannot be explained in terms of successive contrast at a high or low level in the visual system, but can be explained by an anchoring model. The present results follow the same rules governing spatial integration and anchoring and thereby support the currently proposed concept of temporal anchoring.     

Imitation and representational development in young children with Down syndrome

Competence in object search and pretend play are argued to reflect young children's representational abilities and appear delayed in children with Down syndrome relative to social and imitative skills. This paper explores the effects on object search and play of this social strength in children with Down syndrome. Three experiments compared performance on traditional tasks with modified tasks designed to assess the role of imitation in object search and pretend play. Children with Down syndrome, relative to typically‐developing children, were able and willing to imitate hiding actions when no object was hidden (Experiment 1). When imitation was prevented in object search, children with Down syndrome searched less effectively than typically‐developing children (Experiment 2). In play, children with Down syndrome expressed more willingness to imitate a counter‐functional action, modelled by the experimenter, despite apparent competence in spontaneous functional play (Experiment 3). These findings indicate that object search and play behaviours of children with Down syndrome rely more heavily on imitation than is the case for typically‐developing children. The implications for the development of children with Down syndrome and models of representational development are discussed.     

Promoting balance and jumping skills in children with Down syndrome

The purpose of this study was to investigate the changes in balance and qualitative and quantitative jumping performances by 20 children with Down syndrome (3 to 6 years) on jumping lessons. 30 typical children ages 3 to 6 years were recruited as a comparison group. Before the jumping lesson, a pretest was given subjects for balance and jumping skill measures based on the Motor Proficiency and Motor Skill Inventory, respectively. Subjects with Down syndrome received 3 sessions on jumping per week for 6 weeks but not the typical children. Then, a posttest was administered to all subjects. Analysis of covariance showed the pre- and posttest differences on scores for floor walk, beam walk, and horizontal and vertical jumping by subjects with Down syndrome were significantly greater than those for the typical children.     

Epidemiology of Down syndrome

Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in approximately 1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of specific DS-associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances.     

Spatial and temporal frequency in figure-ground organization

Figure-ground organization of an ambiguous pattern can be manipulated by the spatial and temporal frequency content of the two regions of the pattern. Controlling for space-averaged luminance and perceived contrast, we tested patterns in which the two regions of the ambiguous pattern contained sine-wave gratings of 8, 4, 1, or 0.5 cycles per degree (cpd) undergoing on:off flicker at the rates of 0, 3.75, 7.5, or 15 Hz. For a full set of combinations of temporal frequency differences, with each spatial frequency the higher temporal frequency was seen as background for more of the viewing time. For two spatial frequency combinations, 1 and 4 cpd, and 1 and 8 cpd, tested under each of the four temporal frequencies, the lower spatial frequency region was seen as the background for more of the viewing time. When the effects of spatial and temporal frequency were set in opposition, neither was predominant in determining perceptual organization. It is suggested that figure-ground organization may parallel the sustained-transient response characteristics of the visual system.     

Temperament in children with Down syndrome and in prematurely born children

Parents of three groups of children completed the Children's Behavior Questionnaire (CBQ). Participants were children with Down syndrome aged 4-11 years (n = 55), prematurely born children aged 5 years (n = 97), and a group of normally developing kindergarten children 5-7 years of age (n = 91). Mean levels and factor structures on the CBQ were compared between the three groups. The children with Down syndrome had less attentional focusing and expressed less inhibitory control and less sadness than the normally developing children. There were also group differences in temperament structures, especially a clearer emotional factor of "surgency" among the children with Down syndrome. The only significant difference in mean temperament scores between the premature children and the control group was that the former evinced less attentional focussing. The temperament structures in the Norwegian samples were very similar to those reported in earlier studies, conducted in China and the US.     

Language and communication development in Down syndrome

Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language production and syntax and poor speech intelligibility. This article describes research findings in the language and communication development of individuals with Down syndrome, first briefly describing the physical and cognitive phenotype of Down syndrome, and two communication related domains-hearing and oral motor skills. Next, we describe language development in Down syndrome, focusing on communication behaviors in the prelinguistic period, then the development of language in children and adolescents, and finally language development in adults and the aging period. We describe language development in individuals with Down syndrome across four domains: phonology, semantics, syntax, and pragmatics. Wethen suggest strategies for intervention and directions for research relating to individuals with Down syndrome.     

Maternal sensitivity and overt aggression in young children with Down syndrome

Children with genetic syndromes offer a unique opportunity to combine genetic and environmental approaches to the study of aggression. Children with genetic syndromes associated with developmental delay are at increased risk for behavior problems, but little is known about risk and resilience factors. In this study, we examined maternal sensitivity of mothers of children with Down syndrome using home observations when their children were 2, 3, and 5 years old, and relations with maternal reports and observations of overt aggression at school at age 5. Maternal sensitivity at ages 2 and 3 years did not significantly predict child aggression at age 5, but low maternal sensitivity at age 5 was significantly related to overt aggression at both home and school. By replicating and extending earlier work, this study informs developmental theory and identifies an important maternal variable related to aggression in children with Down syndrome.     

Over‐imitation in children with autism and Down syndrome

Typically developing children have been shown to imitate the specific means used by an adult to achieve an object‐directed outcome, even if a more efficient method is available. It has been argued that this behaviour can be attributed to social and communicative motivations. The purpose of this study was to investigate whether children with autism spectrum disorders (ASD), relative to children with Down syndrome (DS), show a reduced tendency to copy the exact means used by an adult to produce a novel outcome. To achieve this a sample of 34 children (22 with ASD and 12 with DS) were given a test of object‐directed imitation. Contrary to expectation, children in both groups imitated the specific method of the model to the same high extent. This finding is in line with suggestions that object‐directed imitation is relatively spared in children with autism but is surprising given arguments linking such imitation to socially based motivations. Nevertheless, children's ability to successfully copy the model was associated with their communicative ability, providing some support for the link between imitation and communication.