Williams Syndrome Essay

Lee, Portnoy, Hill, and Patton (2005) studied the psychological aspect of children with Noonan Syndrome. All of the assessments were conducted in the child’s most natural environment, which was their home setting. The Wechsler Intelligence Scale for Children- Revised was used to test the children’s overall intelligence. This test is often used in many of these studies to obtain a type of baseline for each child. This is helpful, because then children from multiple studies can be compared as opposed to children from just one particular study. This is due to the fact that the

Symptoms. Prader-Willi syndrome presents symptoms beginning in utero, where the fetus is less active than one without the

To clearly distinguish a child as having FAS poses a difficult thing for researchers. They soon began to realize that they were encountering children with some, but not all the classical signs of FAS. Because a diagnosis of FAS demands the presence of all three hallmarks, (growth deficiency, central nervous system dysfunction, and

Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome.

Dr. Daniel Hale Williams was born on January 18, 1856 in Hollidaysburg, Pennsylvania. He was one of the first physicans to perform an open-heart surgery in the United States and founded a hospital with an interracial staff.

This research was conducted to demonstrate the usage of allopurinol can result in Cutaneous Hypersensitivity reaction. Stevens Johnson’s syndrome (SJS) is a cutaneous hypersensitivity reaction which occurs in 3-5% of hospitalized patients.1 These severe cutaneous adverse reactions are characterized by epidermal necrosis, extensive detachment of the epidermis, erosions of mucous membranes and severe constitutional symptoms.4 Despite the Low incidence, SJS has a high mortality rate as stated by BMC Medical Genetics. According to Pharmacogenetics Genomics, Medications are considered to be the major cause of Stevens Johnson’s syndrome (80%). The most common medication is Allopurinol. Allopurinol, an inhibitor of xanthine

Neurodevelopmental disorders are weaknesses of the development and advancement of the cerebrum or focal sensory system. A smaller utilization of the term alludes to a turmoil of mind capacity that influences feeling, learning capacity, discretion and memory and that unfurls as the individual develops. The term is some of the time incorrectly utilized as an elite equivalent word for a mental imbalance and extreme introvertedness range issue.

Neurodevelopmental disorders are characterized by impairments of the growth and development of the central nervous system as they occur by origin, or during infancy and childhood, inhibiting functions that affect emotion, learning, self-control, motor skills, and memory. Specific disorders within this spectrum include but are not limited to, fetal alcohol syndrome, autism, Tourette syndrome, fragile-X syndrome, Down syndrome, ADHD, Mendelsohn’s syndrome, and schizophrenia. Neurodevelopmental disorders stem from many causes, ranging from chromosomal deficiency, genetic and metabolic diseases, immune disorders, infectious diseases, physical trauma, and nutritional, toxic, and environmental factors (Bale, et.al., 2010).

This is a genetic disorder caused by a missing piece of chromosome 4. It is a rare disease and only affects about 1:50,000 births. The result of this missing piece on the short arm of chromosome 4 is a wide range of physical and developmental symptoms and impairments. These include microcephaly, slow growth in utero and postpartum, hypotonia, seizures, profound intellectual disability, cryptorchidism, and hypospadias, amongst many others. In addition, the child tends to have distinct facial features---“Greek Helmet Facies”--- including a broad nose, cranial asymmetry, hypertelorism, micrognathia, abnormal upper lips, cleft lip and/or cleft palate, and preauricular tags and/or pits. The list of remaining signs and symptoms is too long to this for the purposes of this assignment so I have listed some of the more common ones, knowing that each child may exhibit a different cluster of symptoms. Initial signs of the disease are found during pre-natal ultrasounds but it can only be confirmed through genetic testing. (Wolf-Hirschorn syndrome, n.d.)

Prader-Willi Syndrome is a genetic disorder that is passed down maternally. The paternal genes of the chromosome 15 in the region of q11-q13 are deleted or unexpressed. The result of these deletions carries distinct phenotypes that differentiate PWS from other disorders (Böhm, 2014). Some characteristics are a short stature, and specific facial features that tend to make the affected persons resemble one other such as seen in Down syndrome. This typically includes “almond-shaped eyes, a thin upper lip, a downturned mouth, a narrow bridge of the nose, narrow forehead, and a disproportionately long, narrow head (dolichocephaly). Distinctive facial features can be noticeable shortly after birth or may develop slowly over time,” (Cassidy,

○ Presents as normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability 21

This stage brings the common symptoms of PWS, or those “food seeking” behaviors. A person will start to feel unsatisfied in their intake of food and not be able to feel full. If not monitored, this will lead to compulsive eating and an extreme weight gain. Along with this, people with PWS have a lower than usual metabolic rate. This requires a restricted amount of calories, something very hard to maintain with this disease. Physical symptoms that occur in stage two deal with the size of the person. An individual with PWS will be much shorter than others around the same age. This includes small hands and feet, which is accompanied by a curving of the back known as scoliosis. Behavioral problems will become clear in this stage through obsessive compulsive symptoms. This may be shown through picking of the skin, hard to control emotions, and tantrums. These problems will then lead to excessive sleepiness or disturbances in sleep patterns. High pain thresholds have been known to appear as a part of stage two (UKS National Institute of Child Health and Human Development,

Audrey- entering middle school/age 12- Has difficulties in math fluency, math calculations, and applied problems. Difficulties with reading decoding and fluency. She has attention weaknesses that are typical of children with Williams Syndrome. Has difficulties with hands-on learning tasks due to difficulties when visual motor integration is required.

For a student with Williams Syndrome they continue to fall behind with development and maturity behind their peers. Students begin to struggle with fitting in because their social skills are less appropriate. Their interests are not as varied as their peers which makes it a greater challenge socially. Students can have increased anxiety and depression and they “don’t understand why they’re different” (fact sheet). Students with Williams Syndrome have decreasing activity levels, but they continue to acquire new skills.

The neurodevelopmental disorders, according to the DSM 5, are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. Autism spectrum disorder (ASD) is newly classified as such; it was once classified as “Asperger’s Syndrome.” ASD is a severe neurodevelopmental impairment. The disorder limits the functioning capabilities of children and their capacity to communicate as well as interact with others. ASD effects how children perceive the world around them; socializing with others happens to be the most vital piece of development. Onset for ASD can occur as early as infancy, some children, however, may develop normal and then begin to suddenly withdraw and become unusually aggressive with those around them, they also begin to lose vocabulary and language skills they’ve once had. Other medical conditions may be comorbid with ASD; for example, epilepsy, intellectual and structural language disorders, mental disorders, sleep disorders, and avoidant-restrictive food intake disorders, (DSM 5, pg. 59).