The Down Syndrome Behavioral Phenotype: Implications for Practice and Research in Occupational Therapy

2011 ◽  
Vol 25 (1) ◽  
pp. 7-25 ◽  
Author(s):  
Lisa A. Daunhauer ◽  
Deborah J. Fidler
Keyword(s):  
Down Syndrome ◽  
Occupational Therapy ◽  
Behavioral Phenotype

Validation of Hagerman’s behavioral phenotype for fragile X syndrome among men with intellectual disability

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Jacques Bellavance ◽  
Morin Diane ◽  
Catherine Mello
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Design Methodology ◽  
Fragile X ◽  
Behavioral Phenotype ◽  
Care Providers ◽  
Content Type

Purpose The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults. Design/methodology/approach A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers. Findings Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome. Originality/value This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

Adapting Phonological Awareness Interventions for Children With Down Syndrome Based on the Behavioral Phenotype: A Promising Approach?

2015 ◽  
Vol 53 (4) ◽  
pp. 271-288 ◽  
Author(s):  
Christopher J. Lemons ◽  
Seth A. King ◽  
Kimberly A. Davidson ◽  
Cynthia S. Puranik ◽  
Deborah Fulmer ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Phonological Awareness ◽  
Single Case ◽  
Functional Relation ◽  
Behavioral Phenotype ◽  
Future Research ◽  
Single Case Design ◽  
Children With Down Syndrome ◽  
Alphabetic Language ◽  
Case Design

Abstract Many children with Down syndrome demonstrate deficits in phonological awareness, a prerequisite to learning to read in an alphabetic language. The purpose of this study was to determine whether adapting a commercially available phonological awareness program to better align with characteristics associated with the behavioral phenotype of Down syndrome would increase children's learning of phonological awareness, letter sounds, and words. Five children with Down syndrome, ages 6 to 8 years, participated in a multiple baseline across participants single case design experiment in which response to an adapted phonological awareness intervention was compared with response to the nonadapted program. Results indicate a functional relation between the adapted program and phonological awareness. Suggestions for future research and implications for practice are provided.

scholarly journals Foot rotation asymmetry in Down syndrome and the relationship with crawling and walking onset: a cross sectional study

2021 ◽  
Vol 31 (2) ◽  
pp. 247-256
Author(s):  
Camila Valero ◽  
Zan Mustacchi ◽  
Patricia Melo Bezerra ◽  
Francisco Winter Dos Santos Figueiredo ◽  
Alzira Alves de Siqueira Carvalho ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Occupational Therapy ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Online Questionnaire ◽  
Cross Sectional ◽  
Flat Feet ◽  
Therapy Interventions ◽  
Occupational Therapy Interventions ◽  
The Relationship

Introduction: Down syndrome individuals have different gait patterns, which include specific characteristics such as foot rotation asymmetry. Objective: The aim of this study was to analyze the relationship between this asymmetry and the previous acquisition of hands-and-knees crawling in Down syndrome children, as well as the probable association of this gait to gender, ethnicity, comorbidities, physiotherapy, and occupational therapy interventions. Methods: In this cross-sectional study, 361 children with or without foot rotation asymmetry were selected. An online questionnaire was administered to the parents or guardians of those children. Results: Hands-and-knees crawling decreased the prevalence of foot rotation asymmetry in Down syndrome children. The longer it took for walking onset, the higher the prevalence of this asymmetry. Indeed, for each month of delay there was a 7% increase in prevalence. There was a significant relationship between orthopedic alterations in knees or flat feet and foot rotation asymmetry. There was no significance related to gender, ethnicity, other comorbidities, physiotherapy or occupational therapy interventions. Conclusion: The findings in this study revealed that foot rotation asymmetry may be related to the acquisition of the motor skills described above, especially with regards to hands-and-knees crawling and walking onset.

scholarly journals The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome

2015 ◽  
Vol 167 (9) ◽  
pp. 1993-2008 ◽  
Author(s):  
Faycal Guedj ◽  
Jeroen L. A. Pennings ◽  
Millie A. Ferres ◽  
Leah C. Graham ◽  
Heather C. Wick ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mouse Model ◽  
Fetal Brain ◽  
Behavioral Phenotype ◽  
Brain Transcriptome

Early Intervention in Down Syndrome: Targeting the Emerging Behavioral Phenotype

2009 ◽  
Vol 16 (3) ◽  
pp. 83-89
Author(s):  
Deborah Fidler
Keyword(s):  
Down Syndrome ◽  
Early Intervention ◽  
Behavioral Phenotype ◽  
Children With Down Syndrome

Abstract This article discusses behavioral phenotype, or profile of development, associated with Down syndrome, and the implication of this knowledge of intervention for children with Down syndrome. A discussion of development in children with DS, and implications of behavioral phenotype research on intervention decisions, is reviewed.

Developing an Early Reading Intervention Aligned With the Down Syndrome Behavioral Phenotype

2015 ◽  
Vol 32 (3) ◽  
pp. 176-187 ◽  
Author(s):  
Christopher J. Lemons ◽  
Seth A. King ◽  
Kimberly A. Davidson ◽  
Cynthia S. Puranik ◽  
Stephanie Al Otaiba ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Reading Intervention ◽  
Single Case ◽  
Functional Relation ◽  
Early Reading ◽  
Behavioral Phenotype ◽  
Future Research ◽  
Single Case Design ◽  
Early Reading Intervention ◽  
Potential Efficacy

The aim of this project was to develop an early reading intervention for children with Down syndrome based on the related behavioral phenotype. The intervention targeted learning of letter–sound correspondences, reading of decodable and high frequency words, and phonological awareness. We evaluated the feasibility and potential efficacy of the intervention with seven children between the ages of 6 and 8 years who participated in a series of multiple-probe across lessons single-case design studies. Results indicate a functional relation between the intervention and mastery of taught content for three students. Two students demonstrated positive although inconsistent response; two students demonstrated limited learning. Implications for future research and practice are discussed.

Reading Instruction for Children with down Syndrome: Extending Research on Behavioral Phenotype Aligned Interventions

2020 ◽  
pp. 1-17
Author(s):  
Seth A. King ◽  
Christopher J. Lemons ◽  
Kimberly A. Davidson ◽  
Deborah Fulmer ◽  
Alicia A. Mrachko
Keyword(s):  
Down Syndrome ◽  
Reading Instruction ◽  
Behavioral Phenotype ◽  
Children With Down Syndrome
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