HP252 Autism/developmental disabilities in early childhood

Developmental disabilities

An umbrella term for disabilities that also include intellectual disabilities, affecting a person’s ability to independently complete major life activities in 3 or more areas (self care, learning, mobility, receptive and expressive communication, self-direction, capacity for independent living)

Intellectual disability

Must be diagnosed before 18 and an IQ of <70. Mostly caused by genetics, but there are more than 350 different causes.

Down syndrome

Characterized by low muscle tone, small, upward slanted eyes and a dee pcrease acros the palm center.

Fragile X syndrome (FXS)

Characterized by flexible joints, elongated face, flat feet, and big balls. Those with this disability suffer from social anxiety and perseverative speech, worsening over time. 

Occurs when the FMR1 gene on the X chromosome doesn’t made a protein needed for typical brain development, affecting men more because of only having one X chromosome.

Fetal Alcohol Syndrome (FAS)

Characterized by having sleep disturbances, motor dysfunctions, ADHD and aggression. One of the more severe intellectual disabilities.

Phenylketonuria (PKU)

Characterized as aggressiveness, hyperactivity, severe intellectual disabilities. 

Occurs from being born without an enzyme that breaks down phenylalanine to tyrosine, causing brain damage.

Can be treated with a special diet and eliminated through widespread screening.

Klinefelter syndrome (XXY)

Characterized by mild intellectual disabilities, sterility, underdevelopment of sex organs, less hair, and gynecomastia (moobs). Only effects males as it gives them one extra X chromosome.

Prader-Willi syndrome

Characterized by small hands/feet, short (if not treated with hormones), incomplete sexual development, low muscle tone, aggressiveness, OCD, delayed motor skills, life threatening childhood obesity and chronic hunger.

Occurs from the deletion of chromosome 15.

Autism

Characterized by a deficit in social reciprocity, abnormal communication, repetitive patterns of behaviour and interests, excessive adherence to routine.

Autism: the DSM IV to DSM V

In 2013, the DSM V grouped many disorders together and put them under the umbrella term of ASD.

Echolalia

A speech disorder characterized by the repetition of words and phrases that have recently been heard

Immediate echolalia

Repeating words/phrases immediately after they are heard

Delayed echolalia

Repeating words/phrases later, days or hours after they were heard.