Milena was a 6-year-old girl who was referred to her school psychologist by her
ID: 3487986 • Letter: M
Question
Milena was a 6-year-old girl who was referred to her school psychologist by her pediatrician. Milena was diagnosed with Down syndrome when she was an infant. Her pediatrician wanted Milena’s cognitive and academic achievement skills to be reassessed before she began kindergarten this academic year. Milena’s gestation and delivery were uncomplicated. However, Milena was born with a congenital heart defect that required several surgeries. Milena showed physical features associated with Down syndrome. For example, she had a small nose with a flat nasal bridge, almond-shaped eyes, and broad hands with short fingers. Each of her palms had a single transverse crease rather than the many folds seen in most children. Milena showed delays in achieving developmental milestones, especially in the areas of gross motor functioning (e.g., sitting up, walking), fine motor skills (e.g., feeding and dressing herself), and expressive communication (e.g., saying her first words, using two- or three-word phrases). Fortunately, Milena’s parents became active in her education and in a local support group for the caregivers of children with Down syndrome. Milena participated in occupational therapy and speech–language therapy as a toddler and attended a full-day enrichment preschool for children with special needs. Results of the WISC-V indicated that Milena’s full scale IQ was 57, falling in the low range of intellectual functioning. Milena performed better on tests assessing her visual–spatial reasoning and nonverbal fluid reasoning than tests assessing her verbal comprehension skills. Her preschool teacher said that she often learned better through demonstrations and “hands-on” learning than from verbal instruction. Milena showed good eye contact when speaking with others, obeyed classroom rules, and enjoyed playing with other children. Also, with extensive practice, she learned to perform most self-care skills such as bathing, dressing, and cleaning her room. On the other hand, Milena continued to show problems learning her numbers, the alphabet, and the value of money. Her reading skills were poor and her handwriting was mostly illegible. Interpersonally, Milena presented as a charming girl who loved to play with her classmates and spend time with her parents. Her favorite hobbies included soccer, playing with her dog, and helping her parents cook meals. Her parents called her “the cheerful robin” because of her tendency to get up early in the morning and her friendly, social disposition.
Please answer the following questions in complete sentences.
What is the behavioral phenotype for children with Down syndrome? How many aspects of this phenotype does Milena show?
What caused Milena’s disability? Did she inherit Down syndrome from her parents?
What prenatal tests might Milena’s mother have taken to determine the risk that Milena would be born with Down syndrome? Which of these tests carries the greatest risk to the fetus?
Milena’s school psychologist would likely use the results of her assessment to generate an IEP for Milena. What is an IEP?
If you were Milena’s teacher, how might you use principles of universal design to help Milena learn to read and perform mathematics?
In what way might having a child with a known genetic disorder, like Down syndrome, be easier than having child with a developmental disability of unknown origin?
Explanation / Answer
1. The behavioral phenotype for children with down syndrome falls in different areas of motor activity, cognition, social, linguistic and psychopathological.
Motor: Low muscle tone and lowered ability to control muscle stiffness. Children with down syndrome may show impairments in various fine and gross motor skills like balance, flexibility, posture, and strength.
Cognition: Children with down syndrome usually fall into the mild to severe range of intellectual disability. Problem-solving, paying attention, learning, reasoning, memory, decision-making are some of the cognitive skills which may be affected.
Social: Children with Down syndrome are generally described by others as being affectionate, cheerful, charming, outgoing and sociable. This holds true especially if the child is not diagnosed with a comorbid condition od autism spectrum disorders or other neurodevelopmental or genetic disorder/s.
Linguistic: Difficulties on Language and communication is common in children with down syndrome, especially in addition to difficulties in hearing. They are better at receptive than expressive language.
Psychopathological: Aggression, stubbornness, hyperactivity, impulsivity, inattention, and disobedience is largely documented in children with down syndrome.
2. Milena showed four aspects of the behavioral phenotype, namely:
3. Down Syndrome is caused by a genetic abnormality. It is associated with an extra copy of genetic matter on part of or all of the 21st chromosome. This is often referred to as Trisomy 21, an abnormality where individuals are born with 47 chromosomes in each cell as opposed to 46.
4. Down syndrome in Milena's case is very unlikely to be inherited.