Autism Spectrum Disorders and Asperger's Overview

Autism Spectrum Disorders

• Characterized by significant social and communication difficulties, along with repetitive behaviors.
• Can be diagnosed from 18 months to 4 years old; some may not receive a diagnosis until even adulthood; commonly diagnosed in males than females.
• Symptoms typically appear in early childhood and include limited eye contact, delayed speech development, intense interests in specific topics, and sensory sensitivities.
• Physical therapy intervention may play a role in sensory sensitivities.

Asperger's

• Previously known as a milder form of autism.
• Typically diagnosed between 2 and 6 years of age; commonly seen in males than females.
• Often have normal language development but may still experience social challenges (understanding and engaging), challenges interpreting nonverbal communication, repetitive behaviors, and intense interests.
• They may excel in specific areas, such as mathematics or science.
• Physical therapy intervention may play a role in motor coordination.

Rett

• A neurodevelopmental disorder typically affecting females with mutations in the MECP2 gene.
• Diagnosed between 6 months and 2 years.
• It is characterized by ID, ataxia, and growth retardation, representing hand-wringing or repetitive hand movements, loss of purposeful hand skills, impaired social interaction, slowed growth of the head, and breathing irregularities such as hyperventilation and breath-holding.
• Physical therapy intervention may play a role in motor coordination.

Childhood Disintegrative Disorder

• A rare condition in which children develop typically for a period and then lose previously acquired skills in areas like language, socialization, and self-help.
• It typically becomes apparent between the ages of 3 and 4.
• This disorder needs substantial developmental and cognitive challenges.

Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS)

• Diagnosed before the age of 3, but becomes more apparent as the child grows.
• Previously used for individuals who exhibited some but not all of the criteria for autism.
• It was often used for those with milder symptoms or atypical presentations.
• Difficulties in social interactions, repetitive behaviors/restricted interest, limited verbal communication/unusual speech pattern, sensory sensitivities.
• Physical therapy interventions depend on the specific challenges.

Prader-Willi syndrome

• A genetic disorder that primarily affects appetite, growth, and intellectual development.
• It is caused by the absence of specific genes on chromosome 15.
• Diagnosed in infancy, becomes apparent around 2-3 years old.
• Features include narrow forehead, almond-shaped eyes, triangular mouth, small hands and feet, short stature, obesity.
• Common symptoms include hyperphagia (an insatiable appetite), obesity, hypotonia, intellectual disabilities, and behavioral challenges.
• This disorder can be improved with physical intervention.

Angelman syndrome

• A genetic disorder characterized by developmental delays, intellectual disabilities, speech difficulties, and a distinctive happy demeanor.
• Symptoms noticeable 6-12 months of age.
• Features include microcephaly, prominent jaw, wide mouth with a smiling expression.
• Common symptoms include a happy disposition with frequent laughter, seizures, motor and balance issues, limited or absent speech, and ataxia, with hyperactivity and fascination with water.
• This disorder can be improved with physical intervention.

Fragile X syndrome

• A genetic condition caused by a mutation in the FMR1 gene on the X chromosome.
• Effects persist throughout life.
• Males have more severe symptoms due to having one X chromosome.
• Common features include long face, large ears, prominent jaw.
• Symptoms include developmental delays, social and communication difficulties, hyperactivity, and repetitive behaviors.
• This disorder can be improved with physical intervention.

Cri-du-chat syndrome

• A genetic disorder caused by deletion of a portion of chromosome 5.
• Characterized by a distinctive cry (resembling a cat's cry) and intellectual disabilities.
• Diagnosed at birth or shortly after.
• Common features include microcephaly, round face, hypertelorism (wide-set eyes), flat nasal bridge, micrognathia (small jaw).
• Symptoms included developmental delays, a high-pitched cry, speech and language delays.
• This disorder can be improved with physical intervention.

Hurler’s syndrome

• A rare genetic disorder that affects the metabolism of complex sugars, leading to skeletal and organ abnormalities.
• Symptoms are apparent between 6 months and 2 years of age; commonly diagnosed in males due to X-linked inheritance patterns.
• Common features include broad forehead, flattened facial features, enlarged tongue, prominent abdomen, short stature and joint stiffness.
• Symptoms include hearing loss, heart and lung issues, and developmental delays, corneal clouding, hernias, and cognitive impairment.
• This disorder can be improved with physical intervention, enzyme replacement therapy and supportive care.

Fetal alcohol syndrome

• Caused by prenatal exposure to alcohol and results in a range of developmental and intellectual impairments.
• Common features include facial abnormalities, such as a smooth philtrum (groove between the nose and upper lip), thin upper lip, small head circumference, and, growth deficiencies.
• Symptoms include intellectual disabilities, and behavioral challenges.
• This disorder can be improved with physical intervention.

Spinal muscular atrophy

• A genetic disorder described as the progressive degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.
• Common features include muscle weakness, limited mobility, hypotonia, respiratory difficulties, and difficulties with motor skills.
• This disorder is critically treated with physical intervention.

Tourette syndrome

• A neurological disorder characterized by repetitive, involuntary movements and vocalizations known as tics, which can be motor or vocal in nature.
• Symptoms appear between 5-10 years of age.
• Physical therapy intervention may play a role in compensating the tics.

Sensory Processing Disorder

• A condition in which the brain has trouble receiving and responding to sensory information.
• Symptoms vary widely and can include hypersensitivity or hyposensitivity to sensory input, leading to challenges in processing sensory information.
• Other symptoms include sensory-seeking behaviors, coordination and motor skills difficulties.
• Physical therapy intervention may play a role in addressing sensory overload.

Sickle cell disease

• A genetic blood disorder that affects the shape and function of red blood cells.
• In individuals with this condition, red blood cells become misshapen and can block blood flow, leading to pain, anemia, and other complications.
• Primarily affects individuals of African, Mediterranean, Middle Eastern, or South Asian descent, and can manifest at a young age and is more common in people with a family history of the disease.
• Symptoms include pain crises, anemia, fatigue, and increased susceptibility to infections.
• This can be improved with physical therapy interventions.

Osteogenesis imperfecta

• "Brittle bone disease," a genetic disorder characterized by fragile bones that break easily.
• It is caused by a defect in the production of collagen, a protein that provides strength and flexibility to bones.
• Can affect individuals of any age, gender, or ethnic background.
• Symptoms include frequent bone fractures, joint laxity, brittle teeth, hearing loss, and in severe cases, short stature.
• It is often diagnosed in childhood.
• This disorder can be improved with physical therapy interventions.

Arthrogryposis multiplex congenital

• A group of rare congenital disorders that result in multiple joint contractures (stiffness), limiting movement in affected joints.
• It can affect various parts of the body, including the arms, legs, and spine.
• Present at birth and affect individuals of any age, gender, or ethnic background.
• Characteristics include joint stiffness, muscle weakness, and limited range of motion.
• The severity and specific joints involved can vary from person to person.

ADHD Diagnostic Criteria

• The symptoms of hyperactive-impulsiveness and/or inattentiveness must be severe enough to cause significant impairment in social, academic, or occupational functioning, in two or more settings, within a 6+ month period.