Down Syndrome (2) Flashcards by Koden Tietjen

How many total chromosomes are there in the typical human body?

46 (23 pairs)

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What is trisomy?

Additional chromosome (47)

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What is monosomy?

Deletion of a chromosome (45)

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When does addition or deletion of a chromosome occur?

Early cell division (not hereditary)

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What are the structural abnormalities of chromosomes that may lead to Down syndrome?

Deletions

Translocations

Inversions

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What percentage of fetus have a chromosomal abnormality?

10-15% (trisomy is most common)

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What percentage of fetus with chromosomal disorders do not survive to term?

95%

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What is another name for Down syndrome?

Trisomy 21

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What are some characteristics of Down syndrome?

Characteristic features, hypotonia, intellectual impairments, and cardiac anomalies

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What is Edwards syndrome also known as?

Trisomy 18

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What are some characteristics of Edwards syndrome?

Multiple system involvement (usually die within first year)

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What are characteristics of trisomy 13?

Severe CNS involvement (only 10% survive first year)

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What is Klinefelter syndrome also known as?

47XXY

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What happens in Klinefelter syndrome?

Male produces inadequate testosterone and develops secondary male sexual characteristics

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What is Turner syndrome also known as?

45X

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What happens in Turner syndrome?

Short stature, webbed neck, and cardiac anomalies (affects girls)

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What are chromosomal deletion disorders?

Cri-du-chat syndrome

Angelman syndrome

Prader-Willi syndrome

Williams syndrome

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What happens in Cri-du-chat syndrome?

Microcephaly, intellectual disability, high pitched cry, and heart disease

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What happens in Angelman syndrome?

Hypotonia, ataxia, hand flapping, Microcephaly, seizures, facial anomalies, and cardiac arrhythmias

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What happens in Prader-Willi syndrome?

Hypotonia, excessive overeating, early obesity, poor coordination, small hands and feet, and sleep apnea

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What happens in Williams syndrome?

Hypotonia, Cerebellar dysfunction, facial anomalies, spinal deformities, and cardiac involvement

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What does a chromosomal translocation mean?

Transfer of a portion of one chromosome to another (partial trisomy 21)

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What does mosaicism mean in chromosomal abnormalities?

When cells in the same individual have different genetic makeups

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What is mosaicism caused by?

Error in cell division early in fetal development

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What may autosomal dominant inheritance lead to?

Achondroplasia

What may autosomal recessive inheritance lead to?

Cystic fibrosis

What are some X-linked disorders that typically affect males?

Hemophilia Duchenne MD Fragile X syndrome

What is Fragile X syndrome?

Most commonly inherited intellectual disability, poor coordination and motor planning, connective tissue abnormalities, and mitral valve prolapse

What is Lesch-Nyhan syndrome?

Hypotonia followed by spasticity, athetosis, and dystonia (self-injurious behaviors)

What is Rett syndrome?

Girls develop typically for first 6-18 months then progressively regress

What are some symptoms of Rett syndrome?

Hypotonia, ataxia, repetitive hand wringing, significant intellectual disability

What are the most common causes of intellectual disability?

Down syndrome Fragile X syndrome Fetal alcohol syndrome

What is movement dysfunction more associated with?

More severe intellectual disabilities

How do children with motor and intellectual disabilities have impaired learning?

Learning fewer things Takes greater number of reps to learn Greater difficulty maintaining skills that are not practiced Slower response time

What are the five valued life outcomes for all children according to Giangreco?

Safe, stable home Access to a variety of places and engage in meaningful activities Social network of meaningful relationships Level of personal choice and control that matches ones age Being safe and healthy

What are some interventions that can be used to promote activity and participation?

Introduce power mobility (7-11 months old) Determine positioning devices to support sitting and standing Provide services in least restrictive environment

What does it mean when someone has Down syndrome?

Chromosome disorder caused by having an extra copy of chromosome 21 (trisomy 21)

What is the leading chromosomal cause of intellectual disability?

Down syndrome

What are the 3 different types of Down syndrome?

Trisomy 21 Robertsonian translocation Mosaic

What does nondisjunction mean?

21st chromosome fails to split completely when a gamete is formed

What does translocation mean?

When one part of a chromosome detached and re-attaches to a different chromosome (only Down syndrome that can be inherited from parent)

What percentage of Down syndrome is trisomy 21?

95%

What percentage of Down syndrome is Robertsonian translocations?

3-4%

What percentage of Down syndrome is mosaic?

1-2%

What is the severity of clinical presentation of symptoms related to in mosaic Down syndrome?

Proportion of normal to abnormal cells

What increases the risk of having a child with Down syndrome?

Increased age of mother at birth

What age of mothers births the majority of children with Down syndrome?

Women 35 and younger

What is the life expectancy of Down syndrome?

58-60 y/o

When can screening for Down syndrome begin during pregnancy?

8-15 weeks gestation

What are the 3 common maternal serum markers used to screen for Down syndrome?

Alpha-Fetoprotein Unconjugated Estriol Human chorionic gonadotropin

What is the most common finding associated with Down syndrome when using ultrasound?

Nuchal translucency (increased Nuchal fold thickness)

What is required for prenatal diagnosis of Down syndrome?

Cytogenic analysis of cells from the fetus

What are the 2 procedures available for prenatal diagnosis of Down syndrome?

Chorionic villus sampling in 1st trimester Amniocentesis- b/t 15 and 20 weeks of pregnancy

What do the two procedures for prenatal diagnosis carry a risk of?

Loss of fetus (amniocentesis is higher risk)

What is the MaterniT21 test?

New test for prenatal diagnosis of Down syndrome that has no risk to the fetus

What are the physical characteristics of Down syndrome?

Hypotonia Facial characteristics Eye problems Head/ear problems Mouth/oral-motor issues Hand and feet problems Joint hypermobility

What are the facial characteristics in a child with Down syndrome?

Flat nasal bridge Hypertelorism (increased distance between eyes)

What are the eye conditions that can be present in a child with Down syndrome?

Myopia Nystagmus Strabismus Cataracts

What are the characteristics of a child’s head when they have Down syndrome?

Brachycephaly Midface hypoplasia

What are the characteristics of a child’s ears when they have Down syndrome?

Low set and posteriorly rotated

What are the characteristics of a child’s mouth when they have Down syndrome?

Small mandible Tongue protrusion due to narrow dental arch High palate

What are the characteristics of a child’s teeth when they have Down syndrome?

Small peg shaped Delayed or missing teeth

What are the characteristics of a child’s hands when they have Down syndrome?

Short metacarpal and phalanges Clinodactyly (abnormally short and bent pinky)

What are the characteristics of a child’s feet when they have Down syndrome?

Broad feet with widely separated 1st and 2nd toes

Why may some children with Down syndrome need orthotics throughout life?

If they have too much hyper mobility

How does growth occur in children with Down syndrome?

They have growth in their trunk that is greater than the growth in their extremities

What does a child with down syndromes growth make it challenging to do?

Prop sit, protective response, and stair climbing due to short extremities

What is often the first sign of Down syndrome noted in newborns?

Hypotonicity

What happens to the brain in children with Down syndrome?

Structures are smaller than normal (frontal and middle lobes, cerebellum)

What is the most common congenital heart defects in children with Down syndrome?

Atrioventricular septal defect (60%)

What is a common disorder of the ears that occurs with Down syndrome?

Frequent otitis media (hearing loss and speech delays)

What is a common disorder in the GI that occurs with Down syndrome?

Esophageal atresia (underdeveloped esophagus) Duodenal atresia (small bowel blockage) Diastasis recti (with or without umbilical hernia)

What are the spinal abnormalities that come with Down syndrome?

AAI Scoliosis Spondylolisthesis

What are the hip abnormalities that come with Down syndrome?

Hip dysplasia Slipped capital femoral epiphysis

What are the knee abnormalities that come with Down syndrome?

Patellar dislocation Genu valgum Genu recurvatum

What are the feet abnormalities that come with Down syndrome?

Pes planus Hallux valgus Hindfoot valgus

What is Atlantoaxial instability? (AAI)

Hyper mobility of C1-C2 due to bony abnormalities or laxity of ligaments

What needs to be avoided in children with Down syndrome due to AAI?

Exaggerated neck flexion, extension, or rotation

What is a common early onset in children with Down syndrome?

Dementia

What is one of the most difficult developmental domains in children with Down syndrome?

Speech and language (receptive language is better than expressive)

What is important in interventions in children with Down syndrome?

Early intervention and prevent compensatory movement