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  • April 7, 2017
  • 06:22 AM
  • 271 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
  • 335 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
  • 337 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
  • 04:30 AM
  • 285 views

Elbow Stress May Compromise Elbow Health

by Catherine E. Lewis in Sports Medicine Research (SMR): In the Lab & In the Field

Workers and athletes exposed to greater elbow stress (from vibration, high forces, or high repetition) may be more likely to develop elbow osteoarthritis. ... Read more »

  • April 5, 2017
  • 03:14 AM
  • 334 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
  • 292 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 »

  • April 3, 2017
  • 10:23 AM
  • 296 views

Financial Scam Vulnerability: Brain Risk Factors

by William Yates, M.D. in Brain Posts

It is always frustrating when you hear about a financial scam that has target a vulnerable population like the elderly population.Elderly individuals may be targeted for a variety of reasons. First, they often have financial resources. Second, they may be a generally more trustworthy group increasing risk for falling for a scam. Third, elderly may suffer from some age-related brain changes that impair cognition and judgment.A recent research study suggests specific brain deficits may increase vu........ Read more »

  • April 3, 2017
  • 04:30 AM
  • 248 views

Don’t Let Your Concussed Athletes Spin Out of Control; PT is Feasible!

by Jane McDevitt in Sports Medicine Research (SMR): In the Lab & In the Field

Closely supervised cervical and vestibular ocular therapy may help safely return concussed athletes to play.... Read more »

  • April 3, 2017
  • 03:10 AM
  • 299 views

Decreased urinary creatinine levels associated with autism (again)

by Paul Whiteley in Questioning Answers

One finding in particular stood out from those reported by Lussu and colleagues [1] following some nifty metabolomic investigations: decreased levels of urinary creatinine in their cohort of participants diagnosed as on the autism spectrum (n=21) compared with "controls (n = 21), these being siblings of autistic patients."Based on the "use of 1 H-NMR metabolomics to analyze the global biochemical signature of ASD [autism spectrum disorder] patients" researchers turned again to a fa........ Read more »

Lussu M, Noto A, Masili A, Rinaldi AC, Dessì A, De Angelis M, De Giacomo A, Fanos V, Atzori L, & Francavilla R. (2017) The urinary 1 H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings. Autism research : official journal of the International Society for Autism Research. PMID: 28296209  

  • April 2, 2017
  • 04:10 AM
  • 286 views

On the under-studied populations within the autism spectrum

by Paul Whiteley in Questioning Answers

I don't typically post on a Sunday, but given that today - 2nd April - is World Autism Awareness Day I've decided to make an exception. The theme of today's post is based around the notion that the autism spectrum is truly wide and heterogeneous, and although this is fairly universally acknowledged, the current peer-reviewed research literature on autism is perhaps not yet so accepting. So...Consistent with the idea that scientific research seems to go through cycles of themes/interests, th........ Read more »

Chakrabarti B. (2017) Commentary: Critical considerations for studying low-functioning autism. Journal of child psychology and psychiatry, and allied disciplines, 58(4), 436-438. PMID: 28346760  

  • April 1, 2017
  • 04:16 AM
  • 306 views

Yet more bumetanide and autism findings

by Paul Whiteley in Questioning Answers

Bumetanide, a loop diuretic medicine typically used to treat heart failure, is probably not something that most people would associate with 'attenuating' some of the presented characteristics of autism. This Na-K-Cl cotransporter (NKCC) blocking drug (influencing chloride concentrations in neurons and impacting on the actions of gamma-Aminobutyric acid, GABA) has however made quite a few appearances in the peer-reviewed autism research literature (see here and see here) and beyond........ Read more »

Lemonnier, E., Villeneuve, N., Sonie, S., Serret, S., Rosier, A., Roue, M., Brosset, P., Viellard, M., Bernoux, D., Rondeau, S.... (2017) Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders. Translational Psychiatry, 7(3). DOI: 10.1038/tp.2017.10  

  • March 31, 2017
  • 07:00 AM
  • 246 views

Friday Fellow: Mexican Giant Horsetail

by Piter Boll in Earthling Nature

by Piter Kehoma Boll If you are walking through the forest of Central America, you may end up finding something that at first you could think is a group of bamboos, plants growing as a cylindrical segmented stem that can … Continue reading →... Read more »

  • March 31, 2017
  • 02:51 AM
  • 289 views

Coeliac disease, autism and more

by Paul Whiteley in Questioning Answers

"Compared with the general population, children with celiac disease had a 1.4-fold greater risk of future psychiatric disorders. Childhood celiac disease was identified as a risk factor for mood disorders, anxiety disorders, eating disorders, behavioral disorders, ADHD [attention-deficit hyperactivity disorder], ASD [autism spectrum disorder], and intellectual disability."So said the study findings reported by Agnieszka Butwicka and colleagues [1] who, yet again, relied on one of ........ Read more »

Butwicka A, Lichtenstein P, Frisén L, Almqvist C, Larsson H, & Ludvigsson JF. (2017) Celiac Disease Is Associated with Childhood Psychiatric Disorders: A Population-Based Study. The Journal of pediatrics. PMID: 28283256  

  • March 30, 2017
  • 04:04 AM
  • 288 views

Anecdotes are not evidence

by Craig Payne in Running Research Junkie

Anecdotes are not evidence... Read more »

  • March 30, 2017
  • 03:12 AM
  • 293 views

[Objective] exposure to flame retardants and social behaviours

by Paul Whiteley in Questioning Answers

Although a few details of the study reported by Shannon Lipscomb and colleagues [1] (open-access) interested me, I was particularly taken by their use of "a silicone passive wristband sampler [worn] around his/her wrist or ankle" to "assess the child’s exposure to flame retardants" as part of their investigation "to determine if flame retardant exposure was associated with measurable differences in social behaviors among children ages 3–5 years."I've covered the topic of potential adver........ Read more »

Lipscomb ST, McClelland MM, MacDonald M, Cardenas A, Anderson KA, & Kile ML. (2017) Cross-sectional study of social behaviors in preschool children and exposure to flame retardants. Environmental health : a global access science source, 16(1), 23. PMID: 28274271  

  • March 29, 2017
  • 04:30 AM
  • 256 views

Possible Keys For Running Away From Injury

by Nicole Cattano in Sports Medicine Research (SMR): In the Lab & In the Field

Cross country runners who developed a running-related injury during a season had greater knee valgus and ankle eversion velocity before the season started compared with runners who remained injury free. ... Read more »

  • March 29, 2017
  • 02:54 AM
  • 295 views

L-methylfolate administration and autism: a case report

by Paul Whiteley in Questioning Answers

I should have really titled this post 'another case report' given yesterday's entry on this blog talking about a case of [untreated] PKU and autistic behaviours/diagnosis. Here I am again talking about another N=1 with autism in mind and specifically the findings reported by Kim Siscoe & David Lohr [1] on how: "L-methylfolate supplementation improved symptoms of aggression and disruptive behavior in a child with autism who tested positive for the C677TT allele of the methyltetrahydrofolate r........ Read more »

  • March 28, 2017
  • 04:34 AM
  • 306 views

Presenting with the symptoms of autism and then diagnosed with phenylketonuria (PKU)

by Paul Whiteley in Questioning Answers

The case report from Betül Mazlum and colleagues [1] (open-access available here) illustrates once again that (a) the plural 'autisms' exist (see here) and (b) screening for inborn errors of metabolism (IEM) should be an important part of any autism assessment (see here). Indeed, screening for IEM should really be part of assessments for many different labels...Detailing a case report wherein a 3-year old child came to clinical attention for "speech delay and social problems", the authors ........ Read more »

Mazlum B, Anlar B, Kalkanoğlu-Sivri HS, Karlı-Oğuz K, Özusta Ş, & Ünal F. (2016) A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood. The Turkish journal of pediatrics, 58(3), 318-322. PMID: 28266201  

  • March 27, 2017
  • 12:07 PM
  • 305 views

Theory of Mind in Brain Development

by William Yates, M.D. in Brain Posts

Theory of Mind (ToM) is a concept describing the ability to understand what another person is thinking or feeling.Today in my neuroscience medicine news review I ran across a novel, interesting and important research study targeting brain development in ToM.Normally developing children develop ToM around 4 years of age. In the study published in Nature Communications, a research team at the Max Planck Institute in Germany studied white matter development in 3 to 4 year old children.Using a serie........ Read more »

  • March 27, 2017
  • 04:38 AM
  • 310 views

Detecting stereotypic behaviours through technology

by Paul Whiteley in Questioning Answers

"We have designed an Internet-of-Things (IoT) framework named WearSense that leverages the sensing capabilities of modern smartwatches to detect stereotypic behaviors in children with autism."So said the paper by Amir Mohammad Amiri and colleagues [1] (open-access available here) and, I have to say, something that really piqued my [research] attention. Describing how authors managed to design and construct a smartwatch with the ability to "detect three behaviors, including hand flapping, pa........ Read more »

Amiri AM, Peltier N, Goldberg C, Sun Y, Nathan A, Hiremath SV, & Mankodiya K. (2017) WearSense: Detecting Autism Stereotypic Behaviors through Smartwatches. Healthcare (Basel, Switzerland), 5(1). PMID: 28264474  

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