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Genetic Disorders and Dysmorphism

The document outlines key concepts in genetics, focusing on congenital disorders, developmental delays, and assessments related to motor and language development. It lists four congenital disorders, areas of assessment for developmental delay, and specific assessments for motor and language development. Additionally, it defines dysmorphism and its types.

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Shubham Vijay
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9 views2 pages

Genetic Disorders and Dysmorphism

The document outlines key concepts in genetics, focusing on congenital disorders, developmental delays, and assessments related to motor and language development. It lists four congenital disorders, areas of assessment for developmental delay, and specific assessments for motor and language development. Additionally, it defines dysmorphism and its types.

Uploaded by

Shubham Vijay
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

ANIKET ITEKAR GENETICS

UNIT - 3

9741558295
SHORT ANSWERS

1. List four congenital disorder

● Congenital abnormality is a condition, which is present at the time of birth, which varies
from the standard presentation.
● Congenital disorders are:
a. Cystic fibrosis
b. Spina bifida
c. Down syndrom
d. Cerebral palsy

2. List four areas of assessment for developmental delay

● Developmental delay is a significant lag in a child's physical, cognitive ,behavioral


motional or social developement in comparison with norms.
○ language development
○ Motor development
○ Social- emotional development
○ Cognitive development

3. List four assessment done for motor development.

● Discriminative and evaluative measures of motor development and function that are
commonly used for preschool-aged children
○ Bayley Scales of infant Development II.
○ Peabody Developmental Motor Scales
○ Toddler and Infant Motor evaluation,
○ Pediatric Evaluation of Disability IInventory

4. List the assessment done for language development

● Diangnostic Assessment and Evaluation Occur at the beginning of the school year and
before each unit of the study.
○ Formative Assessment and Evaluation
○ Summative Assesment and Evalation
○ Quizzes, Tests, and EExaminations
○ Rating Scales and Rubrics.

5. Define Dysmorphism
● Any congenital ,structural or developmentul defect is known as dysmorphion this usually
occurs due to abnormal embryogenesis or morphogenesis.
● Types:
○ Major Dysmorphism
○ Minor Dysmorphism

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