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Questions and Answers
What is a distinguishing characteristic of autism that typically appears in early childhood?
At what age is Asperger's syndrome typically diagnosed?
Which of the following statements is TRUE regarding Rett syndrome?
What is a common symptom of Asperger's syndrome?
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Which disorder is primarily diagnosed in females due to a specific genetic mutation?
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What physical therapy intervention may be beneficial for individuals with autism?
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Which of the following characteristics is NOT commonly associated with autism spectrum disorders?
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What role does physical therapy play for those with Rett syndrome?
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What is the genetic cause of Fragile X syndrome?
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Which symptom is NOT commonly associated with Cri-du-chat syndrome?
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What are common physical features associated with Hurler’s syndrome?
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Which characteristic cry is associated with Cri-du-chat syndrome?
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What type of interventions can improve conditions related to Fragile X syndrome?
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How does Hurler’s syndrome primarily affect individuals?
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Which aspect is NOT a symptom of Fetal alcohol syndrome?
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What is a common cognitive symptom of Hurler’s syndrome?
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What condition is characterized by fragile bones that break easily due to a defect in collagen production?
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Which of the following symptoms is NOT associated with osteogenesis imperfecta?
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What is a diagnostic criteria for Attention Deficit Hyperactivity Disorder (ADHD)?
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Which of the following conditions includes joint stiffness and muscle weakness due to congenital disorders?
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Individuals affected by which condition have increased susceptibility to infections?
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Which of the following features is NOT typically associated with fetal alcohol syndrome?
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What is a primary treatment method for spinal muscular atrophy?
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At what age do symptoms of Tourette syndrome typically appear?
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Which of the following symptoms is associated with Sensory Processing Disorder?
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What is a common complication associated with sickle cell disease?
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Which age group is primarily impacted by the symptoms of Tourette syndrome?
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Which one of the following interventions may aid in addressing sensory overload?
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Which population is most commonly affected by sickle cell disease?
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What is a characteristic of Childhood Disintegrative Disorder?
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Which of the following is a feature of Prader-Willi syndrome?
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At what age do symptoms of Angelman syndrome typically become noticeable?
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What distinguishes Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS)?
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A common symptom of Prader-Willi syndrome includes which of the following?
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What is a notable characteristic of children with Angelman syndrome?
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Which intervention can notably improve the quality of life for children with Prader-Willi syndrome?
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Which of the following describes a common sign of Childhood Disintegrative Disorder?
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Study Notes
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.
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Description
Explore the characteristics, diagnosis, and interventions related to Autism Spectrum Disorders and Asperger's Syndrome. This quiz covers important aspects such as typical symptoms, age of diagnosis, and the role of physical therapy in managing sensory sensitivities. Test your knowledge on these developmental disorders and their impact.
