Question

Discuss the similarities and differences among the various genetic and developmental disorders. Describe the treatments and technology that assist individuals with these disorders today that were not available a few years ago.

Answer 1

GENETIC DISORDERS

• Genetic problem caused by one or more abnormalities in Gene's.
• Most genetic disorders are rare.
• It may be hereditary or non hereditary.
• In some defect occur due to new gene mutations or altered DNA.
• It can be single gene disorder, multifactorial or chromosomal.
• Single gene disorder due to mutation in single gene. It can be passed on to generations. It can be autosomal dominant, autosomal recessive, X linked dominant, X linked recessive, Y linked, mitochondrial. Eg: sickle cell anaemia, Marfan syndrome, duchenne muscular dystrophy.
• Multifactorial are those diseases associated with effects of multiple Gene's in combination with lifestyle and environmental factors.Eg : asthma , cancers, autoimmune disorders, diabetes, heart disease, etc.
• Chromosomal disorders is due to missing, extra or irregular portion of DNA.Eg : Trisomy 21 or Down Syndrome.
• Diagnosis: prenatal diagnosis through ultrasound ,family history, or other invasive procedures like amniocentesis. Genetic testing,newborn screening, carrier testing.
• Treatment : gene therapy,treating symptoms to improve quality of life, pain management, physical therapy, increasing quality of life, alternative medicine programs .

Gene therapy where healthy gene is introduced to a patient. This will show progression of disease or helps to alleviate defect.

DEVELOPMENTAL DISORDERS

• These are group of Psychiatric conditions along with physical impairment originating in childhood that involves serious impairment in different areas.
• They have difficulty in accomplishing early developmental tasks such as language, communication, socialization and motor skills.
• These disorders comprise language disorders, learning disorders, motor disorders, Autism, neurodevelopmental disorders like ADHD.
• These are present from early life.Most improve as child grows but some pertain with impairment.
• Diagnosis : learning disorder diagnosed from school, communication disorder diagnosed when children not speak at time, their social interaction.
• Treatment : Speech language therapy, occupational therapy, behavioral therapy, sensory integration therapy, symptoms treatment, drug therapy.