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  • April 24, 2017
  • 04:22 AM
  • 38 views

Promising mouse model for Ngly1 deficiency

by adam phillips in It Ain't Magic

A recent study of Ngly1 deficient mice used a secondary knockout to create double knockouts with symptoms similar to human NGLY1 deficiency.... Read more »

  • April 24, 2017
  • 03:05 AM
  • 32 views

Sensory issues in adult ADHD controlling for autistic symptoms...

by Paul Whiteley in Questioning Answers

I was intrigued to read the paper by Bijlenga and colleagues [1] reporting on "the prevalence of sensory hyper- and hyposensitivity among adults with ADHD [attention-deficit hyperactivity disorder], controlling for autistic symptoms."The authors concluded that among their cohort of over 100 adults diagnosed with ADHD, both sensory hyper- and hyposensitivity symptoms as described by response to the Adolescent/Adult Sensory Profile-NL (AASP-NL), were over-represented compared w........ Read more »

Bijlenga D, Tjon-Ka-Jie JY, Schuijers F, & Kooij JJ. (2017) Atypical sensory profiles as core features of adult ADHD, irrespective of autistic symptoms. European psychiatry : the journal of the Association of European Psychiatrists, 51-57. PMID: 28371743  

  • April 22, 2017
  • 06:14 AM
  • 64 views

Autistic adults as critical autism experts (with research caveats)

by Paul Whiteley in Questioning Answers

"Findings suggest that autistic adults should be considered autism experts and involved as partners in autism research."That was the conclusion reached in the paper by Kristen Gillespie-Lynch and colleagues [1] (open-access) reporting on the results of an online survey assessing "autism knowledge and stigma among 636 adults with varied relationships to autism, including autistic people and nuclear family members." Among the various groups of people who contributed to the survey, several vie........ Read more »

Gillespie-Lynch, K., Kapp, S., Brooks, P., Pickens, J., & Schwartzman, B. (2017) Whose Expertise Is It? Evidence for Autistic Adults as Critical Autism Experts. Frontiers in Psychology. DOI: 10.3389/fpsyg.2017.00438  

  • April 21, 2017
  • 04:32 AM
  • 83 views

Parental exposures and risk of offspring autism: some curious details

by Paul Whiteley in Questioning Answers

"Overall, our results were consistent with no positive association between parental asthmagen exposure and ASD [autism spectrum disorder] in the children."So said the findings reported by Alison Singer and colleagues [1] (open-access) continuing a research theme from this group [2] looking at whether "parental workplace exposures to risk factors for asthma (“asthmagens”)" might have relevance to offspring risk for autism.Based on data derived from some of those oh-so-important Scan........ Read more »

  • April 20, 2017
  • 04:37 AM
  • 87 views

"a gradual decline in recorded diagnoses of CFS/ME since 2001"?

by Paul Whiteley in Questioning Answers

The quote forming the title of today's post comes from the paper by Simon Collin and colleagues [1] (open-access available here) who, based on analysis of the UK "Clinical Practice Research Datalink (CPRD), formerly known as the General Practice Research Database (GPRD)" set out to look at the "Incidence of CFS/ME [chronic fatigue syndrome/ myalgic encephalomyelitis], FM [fibromyalgia], post-viral fatigue syndrome (PVFS), and asthenia/debility." I say incidence but that last sentence s........ Read more »

  • April 19, 2017
  • 04:31 AM
  • 111 views

Allergy and ADHD meta-analysed and guess what...

by Paul Whiteley in Questioning Answers

"Reports of frequent manifestation of allergic diseases in children with attention deficit hyperactivity disorder (ADHD) have been the subject of mounting clinical interest."OK, go on."The objective of this study was to compile and assess available studies on the association between ADHD and allergic diseases in children."And your findings... "children with ADHD are more likely to have asthma, allergic rhinitis, atopic dermatitis, and allergic conjunctivitis than their counterparts. Intervention........ Read more »

  • April 18, 2017
  • 04:21 AM
  • 131 views

"Asthma was associated with increased risk for schizophrenia"

by Paul Whiteley in Questioning Answers

'Big data' Taiwan is once again the topic of a post on this blog as the results published by Wei-Chen Wang and colleagues [1] (open-access available here) receive an airing, specifically that: "Asthma was associated with increased risk for schizophrenia."There are some common themes attached to these findings. Taiwan is already a research-favourite place on this blog as a result of their use of the National Health Insurance Research Database (NHIRD) for various research purposes. I can't na........ Read more »

Wang WC, Lu ML, Chen VC, Ng MH, Huang KY, Hsieh MH, Hsieh MJ, McIntyre RS, Lee Y, & Lee CT. (2017) Asthma, corticosteroid use and schizophrenia: A nationwide population-based study in Taiwan. PloS one, 12(3). PMID: 28350822  

  • April 17, 2017
  • 03:00 PM
  • 131 views

The continuing trials and tribulations of PACE

by Paul Whiteley in Questioning Answers

I honestly hadn't intended talking about the PACE trial - "pacing, graded activity, and cognitive behaviour therapy: a randomised evaluation" in relation to chronic fatigue syndrome (CFS) - quite so much on this blog. Others have done it so much better than I ever could.My interest however keeps being piqued in relation to the results originally produced suggesting that: "CBT [cognitive behaviour therapy] and GET [graded exercise therapy] can safely be added to SMC to mo........ Read more »

White, P., Chalder, T., Sharpe, M., Angus, B., Baber, H., Bavinton, J., Burgess, M., Clark, L., Cox, D., DeCesare, J.... (2017) Response to the editorial by Dr Geraghty. Journal of Health Psychology, 2147483647. DOI: 10.1177/1359105316688953  

  • April 13, 2017
  • 04:40 AM
  • 191 views

Video Interaction for Promoting Positive Parenting in autism: yes but not quite...

by Paul Whiteley in Questioning Answers

"Video feedback may help babies ‘at risk of autism’" went one write-up of the study results published by Jonathan Green and colleagues [1] (open-access available here). Continuing a theme of kids at risk of autism potentially 'avoiding' an autism diagnosis (see here) following the use of "a 12-session parent-mediated social communication intervention delivered between 9 and 14 months of age (Intervention in the British Autism Study of Infant Siblings-Video Interaction for Promoting Positive ........ Read more »

Green J, Pickles A, Pasco G, Bedford R, Wan MW, Elsabbagh M, Slonims V, Gliga T, Jones EJ, Cheung CH.... (2017) Randomised trial of a parent-mediated intervention for infants at high risk for autism: longitudinal outcomes to age 3 years. Journal of child psychology and psychiatry, and allied disciplines. PMID: 28393350  

  • April 12, 2017
  • 04:39 AM
  • 213 views

On a 'bidirectional relationship' between depression and autoimmune disorders

by Paul Whiteley in Questioning Answers

"We replicated the finding that autoimmune disorders are frequently comorbid with depression, using a longitudinal national birth cohort and self-report data, which is increasingly used in the study of depression."So said the findings reported by Jack Euesden and colleagues [1] (open-access) adding further to a growing peer-reviewed literature base [2] citing a 'connection' between immune function/dysfunction and the presentation of psychiatric/behavioural features (see here). And yes,........ Read more »

  • April 11, 2017
  • 10:22 AM
  • 235 views

Risking Limb for Life? (A Guest Post)

by Miss Behavior in The Scorpion and the Frog

By Matthew Whitley Imagine you are walking alone in parking lot, when suddenly somebody grabs you by the arm and flashes a knife, demanding your money. Do you A) scream for help, B) try to wrestle the knife away, or C) remove your arm from your shoulder and make a break for it? Disarming your assailant may seem preferable to dis-arming yourself, but for a lizard option C is a likely response. A lizard tail left behind. Image by Metatron at Wikimedia Commons.You likely have heard before that many........ Read more »

Clause, A., & Capaldi, E. (2006) Caudal autotomy and regeneration in lizards. Journal of Experimental Zoology Part A: Comparative Experimental Biology, 305A(12), 965-973. DOI: 10.1002/jez.a.346  

Gilbert, E., Payne, S., & Vickaryous, M. (2013) The Anatomy and Histology of Caudal Autotomy and Regeneration in Lizards. Physiological and Biochemical Zoology, 86(6), 631-644. DOI: 10.1086/673889  

  • April 11, 2017
  • 04:02 AM
  • 202 views

Risk of death by injury and autism

by Paul Whiteley in Questioning Answers

"Individuals with autism appear to be at substantially heightened risk for death from injury."That was the research bottom line published by Joseph Guan & Guohua Li [1] from Columbia University Medical Center, who trawled the accumulated data included in the US National Vital Statistics System screening death certificates issued between 1999 and 2014. Of the approximate 32 million death certificates issued, researchers found that some 1300 people diagnosed as on the autis........ Read more »

Guan, J., & Li, G. (2017) Injury Mortality in Individuals With Autism. American Journal of Public Health. DOI: 10.2105/AJPH.2017.303696  

  • April 10, 2017
  • 04:27 AM
  • 218 views

"Predisposition" to autoimmunity and inflammatory activation linked to autistic regression?

by Paul Whiteley in Questioning Answers

The paper by Ori Scott and colleagues [1] provides some very welcome interest in the concept of regression in relation to autism. As I've indicated quite a few times on this blog, regression accompanying cases of autism has [finally] been accepted by the research community at large (see here for example) but there is still some way to go with regards to the hows-and-whys of regression. There are some clues (see here) but more data is required. What the evidence available so far suggests is ........ Read more »

  • April 8, 2017
  • 09:53 AM
  • 213 views

Publication Alert: High Nucleotide Resolution Study of the Skin Virome

by Geoffrey Hannigan in Prophage

A few weeks ago some colleagues and myself published a new manuscript looking at the diversity of the human skin virome. In our previous previous work, we evaluated the diversity of viruses on the skin. Other groups have looked at virus diversity at other body sites including the gut, lungs...... Read more »

  • April 8, 2017
  • 04:13 AM
  • 245 views

One more time folks... pregnancy folate and autism risk

by Paul Whiteley in Questioning Answers

Folate yet again on this blog? Sorry but that's just how the peer-reviewed papers have fallen..."Maternal folate supplementation during pregnancy may reduce the risk of ASD [autism spectrum disorder] in the offspring, especially in the Western population."So said the meta-analysis by Yu and colleagues [1] reporting on a topic that has seen quite a lot of research interest down the years (see here). Authors this time around cumulatively examined data for some 4,500 cases of autism compared w........ Read more »

  • April 7, 2017
  • 06:22 AM
  • 200 views

Novel FLCN mutations in Chinese patients

by Joana Guedes in BHD Research Blog

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation of the encoded protein folliculin. FLCN consists of 14 exons spanning a........ Read more »

  • April 7, 2017
  • 04:48 AM
  • 230 views

Folate-dependent one carbon metabolism and transsulfuration pathways: biomarkers for autism?

by Paul Whiteley in Questioning Answers

I found it a little unusual that the findings reported by Daniel Howsmon and colleagues [1] (open-access) talking about "multivariate statistical analysis presented herein [provided] unprecedented quantitative classification results for separating participants into ASD [autism spectrum disorder] and NEU [neurotypical] cohorts based solely on biochemical data" merited a rapid reply in a prominent science magazine pouring cold water on the results (see here). Not least bec........ Read more »

  • April 6, 2017
  • 02:44 AM
  • 237 views

"a single intravenous infusion of autologous umbilical cord blood" and autism

by Paul Whiteley in Questioning Answers

'Could stem cells offer hope for autism?' went one media headline referencing the very preliminary "phase I, open-label trial" published by Geraldine Dawson and colleagues [1] (open-access) detailing the experiences of a single intravenous infusion of autologous umbilical cord blood in 25 children with "a confirmed diagnosis of ASD [autism spectrum disorder]."Well, the results were promising in respect of important issues such as safety in light of the tenet 'first do no harm': "Assess........ Read more »

Geraldine Dawson, Jessica M. Sun, Katherine S. Davlantis, Michael Murias,, Lauren Franz, Jesse Troy, Ryan Simmons, Maura Sabatos-DeVito, Rebecca Durham, & Joanne Kurtzberg. (2017) Autologous Cord Blood Infusions Are Safe and Feasible in Young Children with Autism Spectrum Disorder: Results of a Single-Center Phase I Open-Label Trial. Stem Cells Translational Medicine. info:/10.1002/sctm.16-0474

  • April 5, 2017
  • 03:14 AM
  • 238 views

Paediatric congenital heart disease and autism risk (again)

by Paul Whiteley in Questioning Answers

"Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates."So said the findings reported by Jessica Bean Jaworski and colleagues [1] who set about "to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders." Covering a topic that ........ Read more »

Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH.... (2017) Rates of autism and potential risk factors in children with congenital heart defects. Congenital heart disease. PMID: 28299880  

  • April 4, 2017
  • 02:55 AM
  • 208 views

Autism, ageing and comorbidity

by Paul Whiteley in Questioning Answers

I'm not spending too much time today on the findings published by Elizabeth Wise and colleagues [1] but did want to bring them to your attention. Looking at the presentation of "comorbidities and behavioral and neuropsychiatric symptoms" in relation to autism in the context of ageing, some important details were noted. Not least that "GI [gastrointestinal] disorders (68.9%) and seizure disorders (23%) were common, and 25.7% of the sample had a BMI [body mass index] >30" wh........ Read more »

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