Using epigenetics to differentiate between two similar neurodevelopmental disorders and identify shared biology










Genes contain the instructions that determine how our bodies develop, grow and function. Genes are made up of DNA sequences. Changes in our DNA sequence can prevent a gene from working properly. These functionally relevant changes can cause neurodevelopmental disorders. One source of these functionally relevant changes can be caused by “epigenes”. Epigenes are genes that control the expression of other genes by adding epigenetic marks on top of the DNA sequence. These marks direct when and where genes are turned on or off during development. One common epigenetic mark is DNA methylation (DNAm).
In this study researchers investigated two different conditions caused by changes in epigenes.

1. CHARGE syndrome caused by functionally relevant changes in the CHD7 gene.
2. Kabuki syndrome caused by functionally relevant changes in the KMT2D gene.

These two conditions have several features in common, including intellectual disability. They also had some unique features. Researchers found that each condition had a specific pattern of epigenetic (DNAm) marks. This unique pattern is called a ‘signature’.
Sometimes the significance of a change in a gene is unclear. That is, not all changes in DNA affect the way a gene functions. Researchers used the gene-specific signatures to find which DNA changes affect gene functioning and which ones do not. This is very important as this can help to establish a child’s specific diagnosis.

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The Oxytocin Receptor and Social Abilities Across Neurodevelopmental Disorders

Oxytocin, a chemical produced in the brain’s pituitary gland, is known to influence social behaviour. Its  receptor, OXTR, is a region on a cell that is sensitive to oxytocin, and can initiate changes in a cell’s activity, ultimately altering social behaviour in an individual. There are multiple variations (called single nucleotide polymorphisms or SNPs) in the OXTR gene that are known to be related to differences in the social abilities of typically developing populations.  However, it is not known if the same response is found in children with neurodevelopmental disorders, most of whom have some degree of social skills deficits. This study looked at what effects, if any, variations in the OXTR gene had on the social abilities of children with ASD or ADHD.

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“Tummy Time” for Motor Skills Development in Infants with Down Syndrome

Children with Down Syndrome (DS) are at increased risk for many health conditions, such as heart defects and obesity, and commonly have motor development delays. Since motor skills help children interact with their surroundings, they are important to the development of learning, social, and physical skills, and emotional development. So, it is important that children with DS receive focused treatment to improve their motor skills. One type of treatment that can be used is “Tummy Time” (TT), which encourages infants to move around on their stomach (the prone position). TT allows infants to develop motor skills against gravity, which is an important part of more complex motor movements.

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Clinical Management of Children with Fragile X Syndrome

Fragile X Syndrome (FXS) is a condition in which approximately 85% of males have an intellectual disability, and 25% of females do.  FXS also accounts for approximately 2 to 5% of all individuals diagnosed with ASD, with about 60% of males having the condition. Children and adults with FXS also have many medical problems, which include complications with the heart, ears, brain, eyes, gastrointestinal (GI) system, and sleep disorders. Identifying and treating these conditions is important to the health and overall well-being of people with FXS.

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Effects of Aerobic Physical Activity on ADHD Symptoms in Young Children

Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder present in about 1 in 20 children that causes difficulties at home, school, and in peer relations. Current treatments include medications, which can be associated with side effects, and behavioural therapies that are labour intensive. There is a need for treatments that are safe, easy to use, and effective. This study compared the effects of physical activity versus a seated art-based activity.


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Sleep Problems in Children with ADHD

Children with attention deficit hyperactivity disorder (ADHD) are more likely to have sleep problems than children without ADHD.  Previous research has shown that sleep problems in children with ADHD can negatively affect daily living.  However, the risk factors and how persistent these sleep problems are over time in children with ADHD has not been investigated in depth.
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Patterns of Autism Spectrum Disorder in Families

The family members of people with ASD often share many of their traits but don’t have the number or severity of symptoms needed to be diagnosed with the condition. This study looked at whether having multiple children or only one child with ASD, or the sex of the children with ASD in a family influenced the presence and severity of symptoms in the children without a diagnosis of ASD.

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Needs of Young People with High-functioning Autism Spectrum Disorder

Many people believe that individuals who are higher-functioning on the autism spectrum naturally have more positive life outcomes than others with autism. Because of this, policies and programs often fail to include support services for this group of individuals, and may leave some of their vital needs unmet. For this reason, researchers were curious to determine how the families of those with higher-functioning autism felt about the services their loved ones were receiving, as well as the living accommodations and employment statuses of these young adults.
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Mindfulness-Based Stress Reduction as a Treatment for Tourette Syndrome

What is the research about?

Although there are medications available for Tourette Syndrome (TS), some people don’t want to take them, or they have unacceptable side effects.  Behaviour therapies are offered, too, but they work in only some people. Mindfulness-based stress reduction (MBSR) therapies are used successfully in other conditions, it has not been tried with TS.  While stress does not cause TS, it can worsen the tics. This study looked at whether, or not a modified version of MBSR had a positive effect on the tics seen in TS.

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Cognitive Profile of Children and Adolescents with Fragile X Syndrome

Few researchers have looked at whether there are positive or negative changes in the impairments of children and youth with Fragile X syndrome, over time. Another question that has remained unanswered is whether these young people also have strengths in some areas, compared to their weaknesses.  If they do, the strengths may help overcome the effects of their impairments.

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