Chapter
2 The history of early intervention for infants and young children with Down syndrome and their families
Goals of early intervention
Changing expectations for children with Down syndrome
Research about early intervention: past, present, and future
More recent efficacy studies
Early education policy and practice for children with disabilities
Promoting inclusive educational programming
Child characteristics that impact on inclusion
Strategies for promoting language, communication, and social development
Changing perspectives about parent participation in early intervention
US national data on early intervention and preschool special education
Changes in assessment: research and practice and future directions
Accountability in early childhood
Functional child outcomes in an accountability system
Family outcomes in an accountability system
Expectations and information about Down syndrome
Follow-up studies of adults with Down syndrome
Conclusions and looking to the future
3 Advances in clinical endpoints for neurocognitive rehabilitation in Down syndrome
Key properties of clinical endpoint assessments: development of the Arizona Cognitive Test Battery for Down syndrome
The cognitive and behavioral profile of Down syndrome: key clinical endpoints
Key issues in efficacy assessment of neurocognitive intervention in Down syndrome
Translation from rodents to humans
What constitutes significant change?
Section 2 – Genetics, brain, and animal models
4 New perspectives on molecular and genic therapies in Down syndrome
Down syndrome and phenotypes
Criteria used to define candidate genes
Functions or potential functions
Territories of expression
Level of expression in Down syndrome or in transgenic mice
Associated phenotypic changes in murine models
Gene-based corrective strategies
Protein activities as targets
Synaptic plasticity and memory pathways
Gamma-aminobutyric acid pathways
N-methyl-D-aspartate receptor antagonist memantine
5 Brain plasticity and environmental enrichment in Ts65Dn mice, an animal model for Down syndrome
The concept of neuronal plasticity and enriched environment
Mouse models of Down syndrome
The effect of an enriched environment on Ts65Dn mice
Proteins encoded by triplicated genes
6 Development of the brain and metabolism
Early studies of nutrition in Down syndrome and attempts to improve brain development and ameliorate intellectual disability in Down syndrome
Genes on HSA21 relevant to metabolism and nutrition
Mouse models and the study of metabolism, brain development, and Down syndrome
Methyl group metabolism and Down syndrome
Oxidative stress and Down syndrome
Inositol metabolism and Down syndrome and brain development
“Omics” studies of fetal development in Down syndrome and future directions
Conclusions and future directions
Section 3 – Pharmacological and medical management and treatment
7 Pharmacotherapy for children with Down syndrome
Intelligence: cognition, memory, and learning
Thinking about clinical trials
How clinical trials are designed presently
Overlooked physiological variables
Cognitive medication trials
Acetylcholine and the cholinergic system
Macrocircuits and pyramidal neurons: why all the excitement?
Glutamate-based strategies
Microcircuits and interneurons: inhibitory tendencies
Targeting the prefrontal cortex in Down syndrome
Psychotropic medication in persons with Down syndrome
Physiologically impairing symptoms
Strategies to reduce physiologically impairing symptoms
The urgency of reducing physiologically impairing symptoms
Concerns about moving forward
Futuristic notions of biological therapy
Merging biological and educational strategies
The Ts65Dn mouse model of Down syndrome
8 Early medical caretaking and follow-up
Immune disorders and autoimmune diseases
Musculoskeletal disorders
Normal and pathological ageing
9 Evaluation and management of cardiovascular diseases in Down syndrome
Pathophysiology of cardiovascular disease in Down syndrome
Congenital heart diseases in Down syndrome
Atrioventricular septal defect
Ventricular septal defect
Patent ductus arteriosus and aortic arch malformations
Surgical experience at the Cliniques universitaires Saint-Luc, Brussels
Section 4 – Early development and intervention
10 Developmental models as frameworks for early intervention with children with Down syndrome
Werner and the universality of development
Universality and uniqueness
The notion of a whole child
Cicchetti and an expanded developmental approach
Complex developmental trajectories
Implications of developmental models
11 Aspects of motor development in Down syndrome
Fundamental perceptual–motor processes
Development of reach-to-grasp
Recent research from neuroscience
12 Memory development and learning
Short-term memory and Down syndrome
Long-term memory in Down syndrome: a diffuse and pervasive impairment?
Memory, Down syndrome, and brain development
13 Prelinguistic and early development, stimulation, and training in children with Down syndrome
Prelanguage in the first year
Orofacial physical therapy
Lexical development and intervention
14 Speech perception, stimulation, and phonological development
Phonological difficulties in children with Down syndrome
Inconsistency and non-developmental errors
Possible causes of phonological difficulties
The importance of early speech perception in typical development
The impact of early auditory deprivation – the case of children with cochlear implants
Phonological difficulties
Early auditory deprivation and higher-level speech processing abilities
Questions to consider for intervention
15 Goal-directedness as a target for early intervention in Down syndrome
Goal-directedness as a target for early intervention in Down syndrome
Motor exploration, cognitive representations, and goal-directed behavior
Cognitive consequences of motor exploration
Relevance for development in Down syndrome
Relevance for development in Down syndrome
Goal-directedness and development in Down syndrome
Implications for goal-directed behavior
Clinical interpretation and intervention implications
Targeting motor exploration
Strategies to enhance goal-directedness
16 The role of parents of children with Down syndrome and other disabilities in early intervention
The parenting model of child development
The parenting model and developmental intervention
Parenting and intervention effectiveness
Parenting as intervention
Long-term effects of responsive parenting
Making sense of the role of parents in intervention
Why parents are so important to childrens development
Why responsiveness is so important to childrens development
Section 5 – Therapeutic perspectives
17 Perspectives of hybrid therapeutic strategies in intellectual disabilities and Down syndrome