User:Jhud9526/sandbox

"Article Evaluation"

Child development


 * No, not all facts are referenced. There are some sentences that shows a citation is needed. There is a section in the article called Development focused methods and it starts off with some professionals with no references. (STARTS OFF WITH SOME PROFESSIONALS? QUOTES FROM PROFESSIONALS OR INFORMATION ON PROFESSIONALS IN THE FIELD?)


 * Child development is a broad topic and I feel like every part in this articles is relevant to the topic. The risk factors section distracted me at first, because I was wondering what did that have to do with the article. In the opening of the risk factor section it did not mention why risk factors where being talked about. As, I kept reading I realized that those risks factors plays an important part in a child's development.
 * This article is neutral (WHAT LED YOU TO CONCLUDE IT IS NEUTRAL?)
 * All of the sources used in this article are neutral
 * The population differences were underrepresented. For example; they could have went more in depth in the section of population differences. They could of talked about which culture is specifically different from another culture (how is Asia child development different from children in Africa).
 * One of the links could not be found, other than that the links worked fine. I did not find any close paraphrasing in this article.
 * I do not think nothing else needs to be added besides more in the population differences. A few of the sources are dated all the way back to 1968 through the 1990's. (IS HAVING AN OLDER REFERENCE A BAD THING? HOW WOULD HAVING AN OLDER REFERENCE POSSIBLY IMPACT THE VALIDITY OF A SECONDARY SOURCE MORE SO THAN A PRIMARY?)


 * I chose The Pitt-Hopkins syndrome article to edit. I plan to contribute to the treatment section and add on to the history section. Also, I plan to add citations where it is needed in the diagnosis section and add on if needed. I also will edit any other section that needs to be edited. HOW WILL YOU MAKE THE DETERMINATION OF WHAT OTHER SECTIONS NEED TO BE EDITED?

Bibliography

I WOULD STRONGLY ENCOURAGE YOU TO THINK ABOUT THE FOLLOWING SOURCES AS WELL: https://www.ncbi.nlm.nih.gov/pubmed/29318938 https://www.ncbi.nlm.nih.gov/pubmed/30677142


 * Dean L. Pitt-Hopkins Syndrome. 2012 Mar 8 [Updated 2018 Aug 1]. In: Pratt V, McLeod H, Rubinstein W, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK66129/
 * Marangi, G., & Zollino, M. (2015). Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. Journal of pediatric genetics, 4(3), 168-76.
 * Avina Fierro, J. A., & Avina, D. A. (2014). Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. Journal of pediatric genetics, 3(3), 141-5.
 * Sweetser DA, Elsharkawi I, Yonker L, et al. Pitt-Hopkins Syndrome. 2012 Aug 30 [Updated 2018 Apr 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK100240/
 * Sweatt J. D. (2013). Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Experimental & molecular medicine, 45(5), e21. doi:10.1038/emm.2013.32

Signs and Symptoms

''PTHS can be seen as early as childhood. It can be sign in children who always seem very happy and excited.''

''The earliest signs in infants is the lower face and the high nasal root. ''

When it comes to adults who has PTHS, they have trouble with their speech. '''Most of the children are non-verbal. There has been some success with communication devices, but few have more than a handful of words that they use.'''

Carniofacial features, which is important when diagnosing PTHS, becomes more visible as the person gets older. '''I am not sure I understand. Do the features become more distinct?'''

Genetics

The condition was first described in 1978 by Pitt and Hopkins in two unrelated patients.

The genetic cause of this disorder was described in 2007. This disorder is due to a haploinsufficiency of the transcription factor 4 (TCF4) gene which is located on the long arm of chromosome 18 (18q21.2) The mutational spectrum appears to be 40% point mutations, 30% small deletions/insertions and 30% deletions. All appear to be de novo mutations. The risks are low, but higher in the general population due to parental germline mosaicism. I could be incorrect, but I think at least one case was heritable - double check my memory on that.

A Pitt–Hopkins like phenotype has been assigned to autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha (NRXN1) gene on the short arm of chromosome 2 (2p16.3).

Malformations in the CNS can be seen by doing a MRI and can be seen in about 60 to 70% of patients.

There is a chance people with a TCF4 deletion can lack characteristic facial features.

Diagnosis

Diagnosis is made by showing a mutation in the TCF4 gene.

Gene-targeted testing can be used to diagnosis PTHS.

Around 50% of those affected show abnormalities on brain imaging. These include hypoplastic corpus callosum with a missing rostrum and posterior part of the splenium with bulbous caudate nuclei bulging towards the frontal horns.

Electroencephalograms show an excess of slow components.

''According to the clinical diagnosis. PTHS is in the same group as Pervasive Developmental Disorders.''

Evaluations


 * Developmental assessment
 * Assessment for communication devices
 * Talk to a child behavior specialist
 * Pulmonary consultation
 * Child neurology consultation
 * Ophthalmology evaluation
 * Gastroenterology
 * Musculoskeletal evaluation
 * Talk to a clinical geneticist

Differential Diagnosis

Differential diagnosis includes Angelman syndrome, Rett syndrome, and Mowat- Wilson syndrome.

''Angelman syndrome is the one closest to PTHS. Both have absent speech and happy disposition. One thing that they do not have in common is the face abnormalities. Rett syndrome is the least closest to PTHS. This syndrome is seen as a progressive encephalopathy. Mowat-Wilson syndrome is seen in early infancy and is characterized by distinctive facial abnormalities. ''

Treatment Suggest that this section has some editing and possibilities.

''Currently there is no specific treatment for this condition. It is based on symptomatology. Since there is a lack of treatment, people with PTHS use behavioral and training approaches. ''

Recommendations for developmental delay and intellectual disability in the U.S (could change depending on the country)


 * Early intervention program from newborn to age 3. It will help them get access to different therapies (occupational, physical, speech, and feeding).
 * Developmental preschool through your public school system from the ages 3 to 5 years. The child will have to have an evaluation before getting into the program, to see what kind of therapy they would need.
 * From the ages 5-21 your child's school should have create an IEP (based on your child's functions). Children are encouraged to stay in school until at least the age of 21.