Williams syndrome

Did you know there are more uses for baby cams than just checking on your baby? Like making adorable video clips of a parent's devoted care of a cranky baby. For several months, Michela could not sleep through the night and woke up crying every two hours. Here is a video of what happened one night during that period in her young life. (Video) In this baby cam video from 2009, Michela's devoted Canadian father Nunzio Raso goes to check on his crying daughter. He first tries to pat her to clam her

Prader-Willi syndrome is a genetic disorder caused by the deletion of part of chromosome 15. This genetic abnormality affects the hypothalamus which influences growth hormones, sex, thirst, and hunger and is contributed to developmental delay. Children with Prader-Willi syndrome will develop hyperphagia. Hyperphagia is a serious eating disorder, and is characterized by extreme overeating to the point where it becomes life-threatening. Hyperphagia is hard to treat and is the main trait of Prader-Willi

Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting several different parts of the body. There is a wide degree of variation between individuals with the disorder in the presentation and severity of symptoms; however, the features described below represent a typical presentation. Slow growth during both fetal and post-natal development is a characteristic feature of the disorder. Approximately 90% or more of patients display delayed skeletal maturation

Genetic Disorder that Gives the Cry of a Cat The genetic disorder named “cri du chat” is a partial depletion of chromosome 5p. Also known as “ Lejeune's syndrome” as first described by Jerome Lejeune in 1969. The name “cri du chat” is a French term, which means cat-cry or call of the cat, because of how affected children have a kitten like cry. It affects about 1 in 50 000 children born, predominantly inherited by females by a 4/3 ratio. Although this particular symptom has been named after, the

Before I gave the Goldman Fristoe to Lauren, my client, I asked why she they wanted to bring her in to the Butler University Clinic. The parents said that her preschool teacher had a hard time understanding her in class and suggested to take her to a speech pathologist. Lauren spoken language is English and there were no prior medical issues. Therefore, I decided to give Lauren the Goldman Fristoe to see what phonemes she struggled with. Since Lauren is 4 years, 10 months and 17 days old, I gave

Cushing’s Syndrome Cushing’s Disease or Cushing’s Syndrome? Aren’t they the same thing? What are they even? Cushing’s disease is a medical condition; a disorder of the pituitary gland causes it to create too much ACTH (adrenocorticotropic hormone) which in turn leads to overproduction of cortisol. Cushing’s Syndrome is a symptom of Cushing’s disease; as well as of other conditions, whether endogenous (originating from inside the body) or exogenous (originating from outside the body). Pathophysiology

This disorder is a rare developmental genetic condition present at birth, which affects numerous parts of the human body. WS affects 1 in 10,000 people worldwide (Williams Syndrome association, 2014), occurring through the deletion of several genes on chromosome 7. There are many characteristics of this condition including a distinctive cheerful facial appearance, unique behavioural and cognitive traits, mild to moderate

Nonverbal Communication: Uses for Children with Intellectual Disabilities An Intellectual Disability is when you have an IQ of 70 or less. These children have a lot of difficulties in may aspects of there lives. One of the areas they have the most trouble with is there ability to communicate and understand communication. In the article by McLaughlin and Cascella, they test to see if there is a way to teach six children, ages 8 to 13, with moderate to severe intellectual disabilities, that did

and Chomsky. Different theories put forward by these two linguists will be analysed in detail such as, ‘behaviourism, ‘operant conditioning’ and ‘language acquisition theory.’ The essay will then move on to explore two disorders of language, (Down syndrome (DS) and Autism spectrum disorder (ASD)) by analysing previous research, and the different theories put forward by different linguists of how these disorders can effect language development within different individuals. Throughout the essay, attention

Introduction Down Syndrome is a developmental disorder caused by an error in the process of cell division. This disorder is characterized by an extra copy of chromosome 21 (trisomy)(Segal & Pesco, 2015). It is the most common chromosomal disorder and affects 1 in 700 live births (Ramia, Musharrafieh, Khaddage, & Sabri, 2014). According to Segal and Pesco (2015), Down Syndrome is characterised by physical features such as distinct facial characteristics, low muscle tone; conditions such as congenital