Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Unit III Genetic/Developmental,...

Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED.Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED.

Unit III

Genetic/Developmental, Childhood, and Mental Health Diseases and Disorders

Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED.Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED.

Chapter 19

Genetic and Developmental Diseases and Disorders

Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED.

Anatomy and Physiology

• Cell nucleus– 46 chromosomes

– 23 pairs

• Most somatic cells have ability to reproduce through mitosis

• Chromosomes made of units of deoxyribonucleic acid (DNA)


Anatomy and Physiology

• Approximately 2 percent of newborns born with congenital anomalies

• Causes:– 20 percent genetic

– 10 percent chromosomal

– 10 percent environmental

– 60 percent unknown


Diagnostic Tests

• Fetal ultrasound– Detects malformations

• Amniotic fluid– Reveals genetic and chromosomal disorders

• Maternal blood– Reveals abnormal fetal substances


Musculoskeletal

• Muscular dystrophy (MD)– Genetic degeneration of muscles

– Duchenne’s MD• Most common type

– Onset between two and five years of age


Musculoskeletal

• MD– Treatment:

• Physical therapy

• Orthopedic devices

• Exercise

– No cure


Musculoskeletal

• Congenital hip dislocation (CHD)– Abnormal hip joint resulting in femoral head slipping out

of normal position

– Symptoms:• Infant exhibits asymmetrical folds of affected thigh

• Difference in leg length

• Limited abduction


Musculoskeletal

• CHD– Treatment:

• Closed reduction

• Maintenance of normal position by use of splint or cast for two to three months

• Surgery in older children


Musculoskeletal

• Clubfoot– Also known as talipes equinovarus

– Congenital abnormality of foot

– Foot or feet turn inward with toes pointed downward and heel drawn upward

– Treatment:• Cast

• Splints


Musculoskeletal

• Osteogenesis imperfecta– Inherited condition of abnormally brittle bones leading to

fractures

– No cure


Neurologic

• Hydrocephalus– Abnormal accumulation of cerebrospinal fluid in brain due

to obstruction

– Symptoms:• Enlargement of infant head and bulging eyes

• Tight scalp and prominent head veins

• Shrill, high-pitched cry


Neurologic

• Hydrocephalus– Symptoms:

• Unable to lift head

• Mental retardation

– Treatment:• Surgery to place shunt from brain to peritoneal cavity

– Drains excess fluid


Neurologic

• Cerebral palsy– Congenital bilateral paralysis

– Inadequate blood or oxygen supply to brain during fetal development

– Symptoms:• Hyperactive reflexes and muscle contraction

• Muscle weakness with scissors gait


Neurologic

• Cerebral palsy– Treatment:

• Physical and speech therapy

• Orthopedic cast, braces, and surgery

• Anticonvulsants

• Muscle relaxants

– No cure


Neurologic

• Spina bifida– Congenital disorder

• Opening in spinal column

– Forms of spina bifida• Spina bifida occulta

• Meningocele

• Myelomeningocele


Neurologic

• Autism– Developmental disorder characterized by preoccupation

with inner thoughts, daydreams, fantasies, and delusions

– Cause unknown

– Treatment• Behavioral therapy

– Prognosis relatively poor


Cardiovascular

• Congenital heart defect– Atrial septal defect

• Opening between right and left atria

• May be due to foramen ovale not closing at birth

• Causes increased workload on right heart


Cardiovascular

• Congenital heart defect– Ventricular septal defect

• Most common heart defect

• Hole between right and left ventricle

• Blood shunted from left to right

• Causes increased workload on right heart


Cardiovascular

• Congenital heart defect– Patent ductus arteriosus

• Connection between pulmonary artery and aorta that does not close off after birth

• Blood shunts from aorta to pulmonary artery

• Causes increased workload on heart and pulmonary system


Cardiovascular

• Congenital heart defect– Coarctation of aorta

• Stricture or narrowing of aorta

• Causes increased blood pressure proximal to narrowing

• Causes increased workload on heart


Cardiovascular

• Congenital heart defect– Tetralogy of fallot

• Pulmonary valve stenosis

• Right ventricle hypertrophy

• Ventricle septal defect

• Abnormal placement of aorta


Blood

• Sickle cell anemia– Chronic hereditary form of anemia

– Predominantly affects black population

• Hemophilia– X-linked hereditary disorder passed from mother to son


Digestive

• Digestive malformations– Meckel’s diverticulum

• Outpouching of diverticulum of the ileum

– Esophageal atresia• Abnormal esophagus

– Congenital diaphragmatic hernia

– Imperforate anus


Digestive

• Cleft lip– One or more splits in upper lip

– Affects boys more frequently girls

– Treatment:• Surgical repair


Digestive

• Cleft palate– More serious than cleft lip

– Involves roof of mouth

– Treatment:• Surgical repair


Cleft Lip and Palate

Photo courtesy Dr. Joseph Konzelman, School of Dentistry, Medical College of Georgia


Cleft Lip and Palate

Photo courtesy Dr. Joseph Konzelman, School of Dentistry, Medical College of Georgia


Digestive

• Pyloric stenosis– Narrowing of lower end of stomach

– Common anomaly of digestive tract

– Symptoms:• Projectile vomiting

– Treatment:• Pylorotomy


Pyloric Stenosis


Digestive

• Hirschsprung’s disease– Absence of nerves in segment of colon

• Usually sigmoid colon

– Symptoms:• Chronic constipation

• Abdominal distention


Digestive

• Hirschsprung’s disease– Treatment:

• Surgical removal of affected segment

• Temporary colostomy may be necessary to allow adequate healing of colon


Digestive

• Phenylketonuria (PKU)– Genetic disorder involving faulty metabolism of protein

phenylalanine

– Diagnosis by blood test 72 hours after birth• Mandatory in United States

– Lack of treatment can result in mental retardation


Urinary

• Hypospadias– Abnormal congenital opening of male urinary meatus on

under surface of penis

• Chordee– Abnormal fibrous band of tissue


Urinary

• Epispadias– Abnormal congenital opening of male urinary meatus on

upper surface of penis


Urinary

• Wilms’ tumor– Most common solid tumor affecting children and infants

– Highly malignant

– Usually replaces one whole kidney

– Treatment:• Chemotherapy

• Surgery


Reproductive

• Turner’s syndrome– Chromosomal disorder

• Females have only one X chromosome– Rather than two XX chromosomes

– Ovaries either abnormal or absent

– Treatment:• Reduce growth with hormones and estrogen therapy


Reproductive

• Klinefelter’s syndrome– Chromosomal disorder

• Affected males have extra X chromosome

– Symptoms:• Not diagnosed until puberty due to abnormal male sexual

development

• Small penis and testes


Reproductive

• Klinefelter’s syndrome– Symptoms:

• Enlarged breasts

• Absent or scant body hair

• Impaired intelligence

– Treatment:• Testosterone therapy


Other Disorders

• Stuttering– Also known as stammering

– Developmental speech disorder• Hesitancy of starting and finishing words

• Prolonged pauses between words

– Treatment:• Behavior modification

• Positive reinforcement


Multisystem Diseases and Disorders

• Cystic fibrosis– Hereditary disorder

– Affects exocrine glands leading to viscous secretions



• Cystic fibrosis– Treatment:

• Postural drainage

• Chest clapping

• Antibiotics

• Bronchodilators

• Expectorants

• Oxygen



• Down syndrome– Formerly called mongolism

– Symptoms:• Mild to severe mental retardation

• Flat nasal bridge

• Low-set ears

• Slanted eyes



• Down syndrome– Symptoms:

• Epicanthus

• Thick, protruding tongue

• Abnormal extremities

• Organ defects


Trauma

• Failure to thrive– Lack of physical growth and development in infant or child

– Symptoms:• Weight loss or failure to gain weight

• Anorexia

• Irritability

• Vomiting

• Diarrhea


Trauma

• Failure to thrive– Symptoms:

• Weak, rag-doll limpness

• Unresponsiveness to affection

• Wariness of parents or caregivers

• Avoidance of eye contact

• Stiffening when cuddled


Trauma

• Failure to thrive– Treatment:

• Teaching of mothering and nurturing behaviors to mother/parents

• Promotion of self-esteem


Trauma

• Fetal alcohol syndrome– Birth defects to child due to mother consuming alcohol

during pregnancy

– Symptoms:• Varying degrees of mental retardation

• Decreased physical development


Trauma

• Fetal alcohol syndrome– Symptoms:

• Irritability in infants

• Hyperactivity in older children

• Microcephaly

• Increased incidence of ventricular septal defects


Trauma

• Congenital rubella syndrome– Transmission of rubella virus to unborn fetus

– Can cause spontaneous abortion or major birth defects

– Prevention:• Immunization

– No pregnancy for three months after immunization


Rare Diseases

• Anencephaly– Absence of brain or cranial vault

• Achondroplasia– Decreased long bone growth leading to type of dwarfism


Rare Diseases

• Tay-Sachs disease– Genetic error in lipid metabolism resulting in accumulation

of toxins in brain

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