Article Summary on Autism Studies, Thesis of Business Accounting

A summary of two articles on autism studies. The first article hypothesizes whether specific endophenotypes associated with ASDs show association with genes. The second article hypothesizes that the tendency toward increased head size in autism is a generalized phenomenon affecting the population of individuals with idiopathic autism‐spectrum disorders. insight into the various areas of each article to impose its information in brief form.

Typology: Thesis

2023/2024

Available from 01/25/2024

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PSYC 725
ARTICLE SUMMARY ASSIGNMENT
PSYC 725
In every article there are specific sections that one should be very knowledgeable of in order to
locate the appropriate information within a study. In this summary, this writer will give insight to the
various areas of each article to impose its information in brief form. The two articles that will be
discussed will be “A genome-wide association study of autism incorporating autism diagnostic interview-
revised, autism diagnostic observation schedule, and social responsiveness scale” by J. J. Connolly, J. T.
Glessner, & H. Hakonarson and “Head circumference and height in autism: A study by the collaborative
program of excellence in autism” by J. E. Lainhart, et. al.
J. J. Connolly, J. T. Glessner, & H. Hakonarson (2013) hypothesize whether specific
endophenotypes associated with ASDs show association with genes. If it can be proven that
endophenotypes associate with specific genes, the source of autism could be closer to being determined.
It can also clarify some of the impact that autism has both cognitively and behaviorally. J. E. Lainhart,
et. al. (2006) hypothesize that (1) the tendency toward increased head size in autism is a generalized
phenomenon afecting the population of individuals with idiopathic autismspectrum
disorders (ASD), (2) variation in standardized head circumference in autism is related to height, IQ,
SES, and parental head circumference but not age, similar to typically developing children, and (3)
macrocephaly identifies a unique subgroup of autism.
J. J. Connolly, J. T. Glessner, & H. Hakonarson (2013) referenced clinical data that matched the
genotype data for ADOS, ADI–R, and SRS yielded 2,165 individuals representing 926 unique families as
well as 553 females and 1,612 males; the 926 unique family members (probands) comprised 200 females
and 726 males. The ADI–R was used to classify DS symptoms of participants, family history reports were
taken, participants were classified according to how many members of their family had autism diagnosis,
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PSYC 725

ARTICLE SUMMARY ASSIGNMENT

PSYC 725

In every article there are specific sections that one should be very knowledgeable of in order to locate the appropriate information within a study. In this summary, this writer will give insight to the various areas of each article to impose its information in brief form. The two articles that will be discussed will be “A genome-wide association study of autism incorporating autism diagnostic interview- revised, autism diagnostic observation schedule, and social responsiveness scale” by J. J. Connolly, J. T. Glessner, & H. Hakonarson and “Head circumference and height in autism: A study by the collaborative program of excellence in autism” by J. E. Lainhart, et. al. J. J. Connolly, J. T. Glessner, & H. Hakonarson (2013) hypothesize whether specific endophenotypes associated with ASDs show association with genes. If it can be proven that endophenotypes associate with specific genes, the source of autism could be closer to being determined. It can also clarify some of the impact that autism has both cognitively and behaviorally. J. E. Lainhart, et. al. (2006) hypothesize that (1) the tendency toward increased head size in autism is a generalized phenomenon afecting the population of individuals with idiopathic autism‐spectrum disorders (ASD), (2) variation in standardized head circumference in autism is related to height, IQ, SES, and parental head circumference but not age, similar to typically developing children, and (3) macrocephaly identifies a unique subgroup of autism. J. J. Connolly, J. T. Glessner, & H. Hakonarson (2013) referenced clinical data that matched the genotype data for ADOS, ADI–R, and SRS yielded 2,165 individuals representing 926 unique families as well as 553 females and 1,612 males; the 926 unique family members (probands) comprised 200 females and 726 males. The ADI–R was used to classify DS symptoms of participants, family history reports were taken, participants were classified according to how many members of their family had autism diagnosis,

ADI-R, ADOS, and SRS were each applied to or used with each participant. AGP was used to retest both the ADIR and ADOS. J. E. Lainhart, et. al. (2006) collected data between 1999 and 2004 on 420 ASD subjects and 78 unafected siblings and of that 420, 338 were probands (index cases of ASD in their families) including 208 autism probands, 71 were afected siblings, and 11 were more distant afected relatives. Non- autistic individuals were matched with autistic individuals with 1 year of age and similar IQ with no knowledge of head circumference. Participants with autism were classified according to ADOS. ADI- R was also used. Various assessments were applied to specific groups such as the Leiter International Performance scales [Roid and Miller, 1997 ] or the Mullen Tests of Early Learning, WISC‐III or WAIS‐III [Wechsler, 1991 , 1997 ], and the Diferential Abilities Scale [Elliott, 1990 ]. Head circumference was measured and they measured height using a stadiometer. Using reference data, Head circumference and height data were converted to standardized z scores. The results posted by J. J. Connolly, J. T. Glessner, & H. Hakonarson (2013) stated that eight genotype‐phenotype correlates surpassed the probability threshold level of 5 × 10 −8 ,four items from the ADI–R, three from the SRS, and one from the ADOS. Looking at such an unexpected outcome, it brings to question the participants that do not fall within these overwhelming results in comparison with the overall group, it seems to be a very small insignificant amount. “Thirty‐three of the clinical variables showed abnormal distribution and generated an unacceptably high genomic inflation factor based on the SNP data and were excluded” (Connolly, Glessner, & Hakonarson, 2013). For only 33 out of 2, participants to be excluded, that in itself is a positive indication of the knowledge presented being vital to further understanding this disorder. It implies that an association is possibly there. Despite the wealth of knowledge that was gained through the use of this study, J. E. Lainhart, et. al. (2006) stated that t here were no significant differences between the two levels of analysis In their conclusion, J. J. Connolly, J. T. Glessner, & H. Hakonarson (2013) stated that many of the