PEDS Lecture 3

Question 1

What are some Maternal Intrauterine Factors that increase the risk of developmental disabilities?

Answer 1

• STORCH (Syphilis, Toxoplasmosis, Other infections, Rubella, Cytomegalovirus (avoid cat litter boxes!), Herpes Simplex
• Fetal Alcohol Syndrome (most common fetal disorder that is preventable)

Question 2

What are some fetal factors that increase the risk of developmental disabilities?

Answer 2

• Inborn errors of metabolism (Tay-sachs, hunter/ hurler, PKU, etc)
• Chromosomal abnormalities (Down Syndrome, etc)
• CHARGE Syndrome

Question 3

What does the acronym CHARGE stand for?

Answer 3

• Colomba of the eye & CNS abnormalities
• Heart Defects
• Atresia of the Choanae
• Retardation of growth
• Genital or urinary defects
• Ear abnormalities or deafness

Question 4

Briefly describe the following syndromes/ abnormalities:

1. Cri-du chat
2. Fragile X syndrome
3. Tay-Sachs

Answer 4

1. Cri-du chat is a chromosomal abnormality where a piece of chromosome 5 is missing. Individuals cries sound “like a cat,” present with intellectual disability and delayed development, and have hypotonia at birth and hypertonia later in life
2. Fragile X syndrome is a chromosomal abnormality the manifests with poor motor programming, retardation, and congenital displacement of the hip
3. Tay-sachs is an inborn error of metabolism where harmful levels of cell membrane components accumulate in the brain and attack the nerves. It is a progressive disorder that results in early death and is autosomal recessive. Slowed development and hypotonia manifest early in life, but hypertonia, mental retardation, tremors and seizures manifest later.

Question 5

Briefly describe the following syndromes/ abnormalities:

1. Hurler Syndrome (Mucopolysaccharidoses 1)
2. Hunter Syndrome (Mucopolysaccharidoses 2)
3. Sanfilipo

Answer 5

1. Individuals cannot break down long-chained sugar molecules. It is an error in the gene that codes for the enzymes: it is a X-linked recessive abnormality. Can do hematopoetic stem cell transmission (HSTC) to restore missing gene product. HALLMARK SIGN: Gibbus - throacolumbar kyphosis. Inborn error of metabolism.
2. Refer to above statement, as they are similar; however, there is no gibbus manifestation and the disease is less severe than Hurler syndrome. Inborn error of metabolism.
3. In Sanfilipo syndrome, the body cannot break down sugars and bony protrusions occur. It is an autosomal recessive error of metabolism.

Question 6

Briefly describe the following syndromes/ abnormalities:

1. Krabbe Disease
2. Lesch-Nyhan Diseases
3. Phenylketonuria (PKU)

Answer 6

1. Krabbe disease is an inborn error of metabolism where there is a breakdown of myelin in the brain (attacks the brain cells). It is an autosomal recessive trait that causes seizures, brain atrophy and developmental delay.
2. Lesch-Nyhan is an inborn error of metabolism (X-linked recessive) that manifests by the overproduction of uric acid. The individual appears normal at birth with low tone, but eventually evolves to spasticity (starts around 10 y.o. into late teens). HALLMARK SIGN: self-mutilation (bites lips to the point where the lips are gone)
3. PKU is an autosomal recessive inborn error of metabolism where the individual lacks the enzymes to break down phenylalanine. There are no cases in the US, but without dietary restriction, mental retardation will occur.

Question 7

Briefly describe the following CHROMOSOMAL abnormalities:

1. Prader-Wili Syndrome
2. Angelmann Syndrome
3. Wiliams Syndrome

Answer 7

1. Parder-Wili - loss of chromosome 15 function, genomic imprinting from FATHER, where child eats too much and becomes obese and a very young age. Child displays the characteristics with delayed development and overall small stature.
2. Angelmann syndrome - loss of function from chromosome 15, genomic imprinting from MOTHER, where there is severe learning disability, ataxia, jerk-like movements with a puppet-like gaze and seizures. This is also known as “happy puppet syndrome.”
3. Wiliams Syndrome - deletion of elastin in chromosome 7 where CV disease is prevalent. HALLMARK SIGN is an elf-like face with dental deformities, strabismus and short stature. Pt starts with slow and abnormal growth AND tone, but never progresses to increased tone. Early intervention is essential, as scoliosis and contractures can occur when the individual is older.

Question 8

What is Rett Syndrome?

Answer 8

A disease where the child is born normally, but at 6 months the child starts to plateau then rapidly regress in motor skills. The HALLMARK SIGN of Rett Syndrome is regression in laguage and hand wringing. The MECP-2 gene accounts for 80% of the cases (mostly female).

Question 9

What is Down Syndrome?

Answer 9

• The most common chromosomal condition (1/733), aka trisomy 21.
• The incidence for Down’s syndrome occurs as the mother ages (1/200 at age 40)
• If an individual has Downs syndrome, they are at risk for congenital heart defects, AAI** (should be screened for gymnastics program after age of 3). Also at risk for respirtatory, hearing, Alzheimers, leukemia and thyroid conditions.
• All individuals w/ Down’s experience cognitive delays, but they are usually mild to moderate.

Question 10

What are some common characteristics in Down Syndrome?

Answer 10

• Low muscle tone (and low motivation which can be related)
• Hyperflexibility (could lead to ligamentous damage)
• Small stature
• Upward slant of eyes
• Delayed gross motor, fine motor, posture, balance and reduced strength
• Impairment of verbal memory skills and processing (language expression > language comprehension)

Question 11

What are the PT interventions for children with Down Syndrome from Birth to 3 y.o.?

Answer 11

• Promote motor function and development
• Arrange support for parents and facilitate parent-child interaction
• Prevent compensatory movements
• TREADMILL TRAINING at 10 month, possibly orthotics (good evidence that individual will walk 3 months earlier)
• Promote communication
• Adapt environments to facilitate participation
• Promote perceptual motor and social skills (eye gaze and joint attention)

Question 12

What are the PT interventions for children with Downs for Preschool?

Answer 12

• Consult with teachers and parents about integration with others
• Consider orthotics
• Consider manual signs

Question 13

What are the PT interventions for children with Downs for School Age children?

Answer 13

• Prevention of problems associated with aging
• Coordinate with PE teacher and parents to promote physical fitness, inclusion in social events, and promote balance, body awareness, timing and endurance.

Question 14

What are the 4 types of Dysmorphology?

Answer 14

1. Malformation - structural defects in a body part in utero (cleft lip and pallet) (lisencephaly: smooth brain)
2. Dysplasia - abnormal organization of cells (myelodysplasia)
3. Deformation - alteration of body part after or during birthing process (palgiocephaly)
4. Syndrome - pattern of multiple malformation from a single cause

Question 15

What is MELAS? What does it stand for?

Answer 15

• MELAS is a progressive neurodegenerative disorder that is a maternal-inherited condition
• Mitochondrial
• Encephalomyopathy
• Lactic
• Acidosis
• Stroke-like episodes

Question 16

What is the difference between autosomal dominant, autosomal recessive, and X-linked?

Answer 16

Autosomal dominant - you only need the gene from 1 parent to have the disease

Autosomal recessive - needs 2 copies of abnormal gene to inherit trait

X-linked - located on the X-chromosome (Genetic conditions with an X-linked recessive inheritance pattern usually affect only the boys in a family. This is because they are caused by altered or missing genes found on the X-chromosome. Girls are born with two X-chromosomes, so the effects of a working gene on one can mask the effects of an altered or missing gene on the other. They will normally be unaffected carriers of the condition. Boys have only one X-chromosome, so if they inherit one with an altered or missing gene, they will be affected.)