Disorders of Language Impairment

Question 1

Fragile X

Answer 1

A sex-linked genetic disorder (FMR1 gene)
Most common inherited cause of IDD
More common in males

Question 2

Turner’s syndrome

Answer 2

Chromosomal condition - partially or completely missing X chromosome
Affects girls
Loss of ovarian function, doesn’t undergo puberty
Usually, normal intelligence
Common learning disabilities (if any) - spatial concepts or math

Question 3

Prader-Willi syndrome

Answer 3

Congenitial disorder - deletion of chromosome 15 or two copies of mother’s chromosome 15
Become obese, reduced muscle tone and mental ability, no hormones
Phases 0-4 - characterized by insatiable appetite

Question 4

Velocardiofacial syndrome (VCFS)

Answer 4

Velum, heart, and face
Genetic disorder - structural or functional palatal abnormalities (cleft palate), cardiac defects, unique facial characteristics

Question 5

Down syndrome

Answer 5

Also called Trisomy 21 (genetic disorder - chromosome 21)

Results in delays in physical, intellectual, and language development

Question 6

Agenesis of the corpus callosum

Answer 6

Defect - structure connecting the two hemispheres of the brain (corpus callosum) is partially or completely absent
Intelligence can be normal
Severe malformations: intellectual deficits, seizures, spasticity, hydrocephalus

Question 7

Apert Syndrome

Answer 7

Genetic disorder - seems between the skull bones close earlier than normal, affects shape of face and head
Cleft palate, slow intellectual development (speech and language delays)
Low speech intelligibility (can’t form various sounds because of malformations)

Question 8

Pierre Robin Sequence

Answer 8

Rare
Small mandible!
U-shaped cleft palate, hearing loss, speech/language problems

Question 9

Cornelia de Lange syndrome

Answer 9

Congenital syndrome
Microcephaly
Developmental disability
Severe speech and language impairments
Really slow growth rate

Question 10

Cri du chat

Answer 10

Abnormality of chromosome 5

Results in high-pitched voice, developmental disabilities, and limited speech and language abilities

Question 11

William’s Syndrome

Answer 11

Deleted material on chromosome 7
Results in very social individuals
Language skills may appear to be above their cognitive abilities
Developmental delay, learning disabilities, and ADD

Question 12

Landau Kleffner Syndrome

Answer 12

Often called Childhood Aphasia Syndrome
Neurological disorder
Acquired epileptic aphasia - unusual EEG, seizures
Loss of language - occurs between 3-7 years old
Rare

Question 13

Angelman

Answer 13

Genetic disorder - UBE3A gene missing on chromosome 15
Developmental delay, Ataxia, neurological problems
Frequent smiling and laugher, excitable personality, hand-flapping movements
Seizures
Speech: little to no words, babies cry less often

Question 14

Smith Magenis

Answer 14

Developmental disorder - chromosome 17
Typically not inherited
Broad, square-shaped face with deep-set eyes
Mild-moderate intellectual disability, delayed speech/language
Affectionate, but have behavioral problems

Question 15

Cytomegalovirus

Answer 15

Teratogenic syndrome
Belongs to herpes family
Transmitted through body fluids
Symptoms: blurred vision and blindness, inflammation of the brain
Children born with it: developmental problems, HL, vision loss