Caring for our children's future
Date: April, 2015
Investigators explored whether the diversity of clinical features across patients with autism reflects heterogeneous sources of genetic risk. In search for a "purer" autism i.e., a more genetically homogenous, group of patients, making it easier to find autism-related genes, researchers selected a group of patients with similar clinical features. Scientists used data from the Simons Simplex Collection, which includes 2576 autism families, the largest such cohort collected to date.
In this sample, there were 11 subgroups of patients with similar diagnostic, IQ and symptom profiles identified. Researchers then analysed the data for each subgroup in an attempt to discover common genetic variants that signal risk for autism spectrum disorder.
Their results did not identify any genome-wide significant associations in the overall sample or in the phenotypic subgroups. This means that the extreme clinical variability observed among patients with autism spectrum disorder does not closely reflect common genetic variation. "This study did not provide good evidence that selecting patients with similar symptoms results in a greater ability to find autism genes," said Dr. John Krystal, Editor of Biological Psychiatry. "This might suggest that some of the clinical variability in autism arises from causes other than genetic vulnerability, such as responses to the environment."
It is important to note that these results are in alignment with the recent major change to autism's diagnostic classification in the Diagnostic and Statistical Manual of Mental Disorders. In its 5th revision, several separate disorders, which included autism and Asperger's disorder, were grouped into a single category termed autism spectrum disorder. That decision was based on growing evidence that the previously-distinct disorders actually reflected a continuum of severity of the same condition.
Chaste, P. et al. (2015). A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry, 77, DOI: 10.1016/j.biopsych.2014.09.017
Source: Cell Press
Autism spectrum disorder can produce different clinical outcomes in children, with some having strong language and speech abilities and others not talking at all. A new study reveals at the first signs of possible autism in infants and toddlers, neural activity in language-sensitive brain regions is already similar to normal in those autism spectrum disorder toddlers who eventually go on to develop good language ability but nearly absent in those who later have a poor language outcome.
The researchers studied 60 ASD and 43 non-ASD children using fMRI method to record brain activity in the participants as they listened to excerpts from children's stories. All toddlers were clinically followed until early childhood to make a final determination of which ones eventually had typical versus poor language outcomes.
In ASD, good language outcomes by early childhood were preceded by normal patterns of neural activity in language-sensitive brain regions, including superior temporal cortex, during infant and toddler ages. By contrast, ASD children with poor language outcomes showed very little activity in superior temporal cortex when they were toddlers or infants.
The researchers also found that, when combined with behavioural tests, these early neural differences may help predict later language outcome by early childhood.
This research is beneficial to practice as the activation, or its absence, in language cortex may predict treatment responsiveness in toddlers with ASD engaging in behavioural interventions that target language and speech.
Lombardo, et al., (2015). Different functional neural substrates for good and poor language outcomes in autism, Neuron, DOI: http://dx.doi.org/10.1016/j.neuron.2015.03.023
Date: March, 2015
Source: University of Florida
Child-directed interaction training is an evidence-based treatment for children with behavioural and emotional disorders that places emphasis on improving the quality of the parent-child relationship and changing parent-child interaction patterns.
This study examined the efficacy of Child-Directed Interaction Training (CDIT) for children with an Autism Spectrum Disorder (ASD). Thirty mother-child interactions with children ages 3-7 years with a diagnosis of ASD participated in this study. After completing 8 sessions of CDIT training, statistically significant improvements in disruptive behaviours and social awareness as well as maternal distress associated with child disruptive behaviour occurred. During sessions, mothers learned to provide positive attention to their children's appropriate social and play behaviours. Both child and parent changes were maintained at 6-week follow-up.
This relatively brief, time-limited, and accessible intervention may be efficacious for improving child and parent behaviours in families of young children with ASD. By decreasing disruptive behaviours, CDIT may also help to prepare children to benefit further from and engage in future interventions.
Ginn, N. C., Clionsky, L. N., Eyberg, S. M., Warner-Metzger, C., & Abner, J. P. (2015). Child-directed interaction training for young children with Autism Spectrum Disorders: Parent and child outcomes. Journal of clinical Child and Adolescent Psychology, 18, 1-9.
Date: June 8, 2011
Source: Arizona State University, USA
The relationship between relative metabolic disturbances and developmental disorders is an emerging research focus. This study compares the nutritional and metabolic status of children with autism with that of neurotypical children and investigates the possible association of autism severity with biomarkers.
Participants were 55 children aged 5-16 years in Arizona with Autistic Spectrum Disorder compared with 44 neurotypical controls of similar age, gender and geographical distribution. Autism severity was assessed using the Pervasive Development Disorder Behavior Inventory (PDD-BI), Autism Treatment Evaluation Checklist (ATEC), and Severity of Autism Scale (SAS). Study measurements included: vitamins, biomarkers of vitamin status, minerals, plasma amino acids, plasma glutathione, and biomarkers of oxidative stress, methylation, sulfation and energy production.
The autism group had many statistically significant differences in their nutritional and metabolic status, including biomarkers indicative of vitamin insufficiency, increased oxidative stress, reduced capacity for energy transport, sulfation and detoxification. For example, participants with ASD exhibited lower levels of biotin, plasma glutathione, RBC SAM, plasma uridine, plasma ATP, RBC NADH, RBC NADPH, plasma sulfate (free and total), and plasma tryptophan; and higher levels of oxidative stress markers and plasma glutamate compared to the control group. Several of the biomarker groups were significantly associated with variations in the severity of autism. This research highlights the need for biomedical consideration in the treatment of ASD.
Adams, J. B. et al. (2011). Nutritional and Metabolic Status of Children with Autism vs. Neurotypical Children, and the Association with Autism Severity. Nutrition and Metabolism (Lond), 8. DOI: 10.1186/1743-7075-8-34.
Date: March 2, 2015
Source: Rowan University
A newly published study is the first to report an association between bisphenol-A (BPA), a common plasticiser used in a variety of consumer food and beverage containers, with autism spectrum disorder (ASD) in children.
"It has been suspected for a lot of years that BPA is involved in autism, but there was no direct evidence," said T. Peter Stein, of Rowan University and the study's lead author. "We've shown there is a link. The metabolism of BPA is different in some children with autism than it is in otherwise typically developing children." The research team examined urine specimens from 46 children with ASD and 52 typically developing control children. The metabolomics analyses showed total BPA excreted to be approximately three times greater with the ASD group than the controls.
"Other studies involving rodent data have shown that BPA functions as an endocrine disruptor, but ours is the first to show this in humans and the first to associate it to autism," Stein said. "The observations show that for some children there was a relationship between the ability to metabolise BPA and symptoms of autism."
"The key point is that the study seems to link BPA to autism and creates an open area for further research. One implication of our study is that there might be a benefit to reducing BPA exposure for pregnant women and for children with autism."
Stein, P. T., Schluter, M., Steer R. A., Guo, L., & Ming, X. (2015). Bisphenol A Exposure in Children With Autism Spectrum Disorders. Autism Research, DOI: 10.1002/aur.1444
Date: February 25, 2015
Source: UCSF Benioff Children's Hospital Oakland
Although essential omega-3 fatty acids and vitamin D have been shown to improve cognitive function and behaviour in the context of certain brain disorders, the underlying mechanism has been unclear. In a new paper published in FASEB Journal, serotonin is explained as the possible missing link tying together why vitamin D and omega-3 fatty acids might ameliorate the symptoms associated with a broad array of brain disorders.
Serotonin affects a wide-range of cognitive functions and behaviors including mood, decision-making, social behavior, impulsive behavior, and even plays a role in social decision-making by keeping in check aggressive social responses or impulsive behavior.
Many clinical disorders, such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), bipolar disorder, schizophrenia, and depression share as a unifying attribute low brain serotonin. "We link serotonin production and function to vitamin D and omega-3 fatty acids, suggesting one way these important micronutrients help the brain function and affect the way we behave."
Their paper illuminates the mechanistic links that explain why low vitamin D, which is mostly produced by the skin when exposed to sun, and omega-3 deficiencies interacts with genetic pathways, such as the serotonin pathway, that are important for brain development, social cognition, and decision-making, and how these gene-micronutrient interactions may influence neuropsychiatric outcomes. "Vitamin D, which is converted to a steroid hormone that controls about 1,000 genes, many in the brain, is a major deficiency in the US and omega-3 fatty acid deficiencies are very common because people don't eat enough fish," said Dr. Ames.
This publication suggests that optimizing intakes of vitamin D and omega-3 fattyacids would optimize brain serotonin concentrations and function, possibly preventing and ameliorating some of the symptoms associated with these disorders without side effects.
Patrick, R. P., & Ames, B. N. (2015). Vitamin D and the omega-3 fatty acids control serotonin synthesis and action, part 2: relevance for ADHD, bipolar, schizophrenia, and impulsive behavior. FASEB Journal, DOI:10.1096/fj.14-268342
Gastrointestinal complaints are commonplace among children with Autism. Some studies have found that up to 90 percent of children with Autism suffer from intestinal problems. According to the Centre for Disease Control, they're more than 3.5 times more likely to experience chronic diarrhea and constipation than their typically developing peers.
Australian clinical research, reported at the 2005 Victorian Autism Conference by Drs. Jacques Duff and Henry Butt revealed striking differences in the distribution of bacteria in the gut of autistic versus typically developing children, a condition known as Intestinal Dysbiosis.
More recently, researchers at the California Institute of Technology have shown for the first time that this imbalance may actually contribute to the disorder. The behaviours of rats with Autistic behaviours improved with specific probiotics.
Although Autism is treated primarily through behavioral therapy these studies suggest that redressing the gut flora can improve behavioral symptoms. At the Behavioural Neurotherapy Clinic in Melbourne redressing intestinal Dysbiosis is an integral part of treatment for Autism. A faecal microbiology analysis is used to study the gut flora and dietary changes are used with specific probiotics to normalise the gut flora and improve symptoms.
1. I am not “autistic.” I am first, foremost, and always a person, a student, a child, and I have autism. Do not confuse me with my condi- tion. And, please, do not use the term in a negative or inconsiderate way. I deserve to be respected.
2. I am an individual. Having autism does not make me the same as other people with autism. Make an effort to know me as an individual, to understand my strengths, my weaknesses, and me. Ask meundefinedand my friends and my family, if I cannot replyundefined about my dreams.
3. I deserve services, just like all children. Ser- vices for me begin early. Autism isundefinedor it will be, when recognizedundefineda public health issue in many countries of the world. There are instruments to screen it. They should be applied in the framework of screening for other developmental disabilities. If you start soon, my life will be different! And remember that about one quarter of my siblings will have autism or other problems. Help them; they are an important part of my life.
4. I belong in the health care system, just like all children. Include me in regular health care. The health care system should adapt to me, limiting waiting times and ensuring that I understand what is to be done, by using, for example, easy-to-read materials, pictograms, technologic means, and so forth. Other patients also will benefit.
5. I belong with other children. Do not separate me from them because you want to treat me, educate me, or care for me. I can, and I should, be placed in regular schools and regular community settings, and special support should be provided to me in those places. I have something to teach other chil- dren and something to learn from them.
6. I belong with my family. Plan with me for my future and my transitions. I am the one who should decide, and, when my ability to do so is limited, my family and friends will speak for me. No government agency can take the place of my family, and, please, make sure that our society values my family’s generosity when they support me on society’s behalf.
7. I deserve the right to evidence-based services. These may not be convenient or easy, but when I get them, I do better. Do not substitute my educational, health, and social support with medication. I may require medication, and I look forward to new developments in biological treatments, but you must be cautious in their use. Count on me for research ventures; get me involved, with all my rights protected. I also want to help others.
8. I belong in society. Engage me in vocational training. I want to contribute. The services I need during my adult life should be guided by self-determination, relationships, and in- clusion in all the activities of my community. Your goal must be to adapt the environment I have to face and modify settings and atti- tudes. It also will make our society better.
9. I have human rights, and I face discrimination for many reasons. Many of us live in poverty with no community support system. Some of us are immigrants or minorities, including sexual minorities. Keep a gender perspective. Girls and women with autism are often at greater risk of violence, injury, or abuse.
10. I belong in the world. I have a role to play. We, and my legal representatives, want to be involved in policy making, its development, and its evaluation. You need my help to know what should be done. Empower me. Remember my motto: nothing about me, without me.
Joaquin Fuentes, MD ; Autism Spectrum Disorders: 10 tips to support me. Journal of The American Academy Of Child & Adolescent Psychiatry. volume 53 number 11 November 2014
With funding from Autism Speaks, Dr. Yang and his team hope to improve the Virtual Reality Social Cognition Training program’s effectiveness in teaching social skills to adults with autism spectrum disorder. In the first phase of the study, they are evaluating how well the program improves social understanding. Using brain imaging and brain-wave monitoring, they’re also tracking whether and how the program changes brain activity and connections between brain regions involved in social behavior.
“Our early results are beginning to reveal a remarkable degree of malleability in the neural systems involved in social cognition in adults with ASD,” he says. Lay translation: On brain scans performed after the training, the researchers are seeing brain regions associated with social understanding literally light up in ways they hadn’t before.
A study, funded in part by Autism Speaks, is among those being discussed this week at Neuroscience 2014, the world’s largest gathering of brain researchers.
Early findings from the ongoing study suggest that Pivotal Response Training (PRT) doesn’t just teach children social-communication skills. It also improves activity in brain regions associated with social behavior. The researchers foresee a day when brain scans may help identify which children will respond most strongly to particular therapies.
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