Answer: The exact cause or causes of autism are still unclear. Research suggests that autism often develops from a combination of genetic and nongenetic, or environmental, influences. These influences appear to increase the risk. However, it’s important to keep in mind that increased risk is not the same as cause. For example, some gene changes associated with autism can also be found in people who don’t have the disorder. Similarly, not everyone exposed to an environmental risk factor for autism will develop the disorder. Children who are born prematurely have a greater chance of being autistic, and children with older fathers are at slightly higher risk of autism.  
1. Kong A, et al. Rate of de novo mutations and the importance of father’s age to disease risk. Nature. 2012; 488(7412):471-5.
2. Leavey A, et al., Gestational Age at Birth and Risk of Autism Spectrum Disorders in Alberta, Canada. J Pediatr.2013; 162(2):361-8.
Answer: Although, there is no cure as the extra chromosome will remain in cells throughout the person’s life. However, early intervention programme , high quality health care, good educational opportunities, and many other interventions make a huge difference in the individual’s life.
SLEEP LINKED TO LANGUAGE SKILLS IN NEURODEVELOPMENT DISORDERS
(Study is first to examine relationship among children with Down’s, Fragile X and Williams syndrome)
Date: January 16, 2020
Source: Anglia Ruskin University
Alongside colleagues from the University of Cambridge; Birkbeck, University of London; The LonDownS Consortium, London; Semmelweis University, Budapest; and the University of Oxford; Dr D’Souza compared the vocabulary size and sleep patterns of 75 infants and toddlers with one of these neurodevelopmental disorders alongside 30 typically developing children of the same age.
The researchers found that sleep was disrupted amongst children with all three neurodevelopmental disorders. On average, typically developing children slept for about 50 minutes longer per night than those with a neurodevelopmental disorder.
They also spent less time awake during the night. Whereas typically developing children spent on average just three minutes awake per night, the children with a neurodevelopmental disorder were awake for around 30 minutes longer.
The study also found that the longer the infants and toddlers with Down’s syndrome and Williams syndrome slept at night, the more words they knew. For each additional 10 minutes of sleep, these children would understand the meaning of six additional words. The researchers were unable to test this relationship with children with Fragile X syndrome because of the limited sample size.
The children were tested using a list of 416 words that are commonly acquired in early childhood, with the caregiver indicating whether their child can “understand” or “understand and say” the word. Only one of the 75 children with a neurodevelopmental disorder was able to understand, but not say, all 416 words. This child was 47 months old and had Williams syndrome. Nine of the 30 typically developing children (30%) were able to understand, and say, all 416 words.
Dr D’Souza, Senior Lecturer in Psychology at Anglia Ruskin University (ARU), said: “Children with neurodevelopmental disorders commonly have difficulties with language development. Many different factors are likely to contribute to this, and our study focused on the role of sleep. This is because sleep is important for learning and memory, and individuals with neurodevelopmental disorders often report having problems sleeping.
“Our research demonstrates that sleep is disrupted very early in development across various neurodevelopmental disorders, and the indications are that this is contributing to difficulties with learning language.
“Further research is needed to explore whether early interventions to improve the sleeping patterns of children with Down’s syndrome, Fragile X syndrome and Williams syndrome would be as beneficial for their language skills as interventions later in their development that specifically target language learning.”
Journal Reference: Dean D’Souza, Hana D’Souza, Klára Horváth, Kim Plunkett, Annette Karmiloff-Smith. Sleep is atypical across neurodevelopmental disorders in infants and toddlers: A cross-syndrome study. Research in Developmental Disabilities, 2020; 97: 103549 DOI: 10.1016/j.ridd.2019.103549
Risk of developing depression and anxiety is higher in those with cerebral palsy
Date: January 2, 2019
Source: University of Surrey
Summary: Adults with cerebral palsy have a higher risk of developing depression and anxiety than their peers without the condition, a new study reports.
Adults with cerebral palsy have a higher risk of developing depression and anxiety than their peers without the condition, a new study in the journal JAMA Neurology reports.
A team of researchers led by Dr Kimberley Smith from the University of Surrey and Dr Jennifer Ryan from the Royal College of Surgeons in Ireland, funded by Brunel University London, investigated the mental health of those with cerebral palsy and compared it with peers of a similar age, sex and socioeconomic status, who were not sufferers. Intellectual difficulties, which can affect many with the condition, were also examined to determine if they have an impact on the development of depression and anxiety.
Relatively little is known about the mental health of adults with cerebral palsy as it is often considered to affect only children, despite many living with the condition into adulthood.
Researchers examined up to 28 years of UK primary care data of 1,700 adults aged 18 or older with cerebral palsy, and 5,115 adults who did not have the condition.
Researchers found that the risk of depression was 28 percent higher and the risk of anxiety was 40 percent higher among adults with cerebral palsy who have intellectual difficulties compared to those without the condition.
For those who had cerebral palsy but did not have an intellectual disability, the possibility of developing depression and anxiety increased further. The risk of depression was 44 percent higher and the risk of anxiety was 55 percent higher in adults with cerebral palsy who didn’t have an intellectual disability, in contrast to their peers.
Lead author Dr Kimberley Smith, Lecturer in Health Psychology at the University of Surrey, said: “More needs to be done to understand why those with cerebral palsy have a greater risk of developing depression and anxiety.
“People with cerebral palsy face unique challenges as they age which could be linked to anxiety and depression. This study has allowed us to define the issue; the next step will be to better understand why it happens so we can develop targeted mental health interventions for this population.”
Cerebral palsy is a condition that affects muscle control and movement and is usually caused by an injury to the brain before, during or after birth. Latest figures from Scope, the national disability charity, has shown that cerebral palsy affects about one in every 400 children in the UK. It is anticipated by 2031 there will be a threefold increase in the number of people with cerebral palsy over the age of 65.
“These findings support the need to consider cerebral palsy as a lifelong condition and to identify and address mental health problems among people with cerebral palsy alongside physical health problems,” said Dr Jennifer Ryan, study co-author and StAR Research Lecturer at RCSI.
“Despite historically being considered a paediatric condition, the majority of with cerebral palsy live well into adulthood, and many adults with cerebral palsy experience a worsening of impairments, including a decline in mobility. We hope that the findings of the study will help accelerate a response to adults with cerebral palsy who report inadequate provision of coordinated health services worldwide.”
This study also included researchers from Brunel University London, Queen Mary University of London and the University of Michigan.
Kimberley J. Smith, Mark D. Peterson, Neil E. O’Connell, Christina Victor, Silvia Liverani, Nana Anokye, Jennifer M. Ryan. Risk of Depression and Anxiety in Adults With Cerebral Palsy. JAMA Neurology, 2018.
Rich rewards: Scientists reveal ADHD medication’s effect on the brain
Researchers scan the brain to uncover how medication for ADHD affects the brain’s reward system
Date: January 17, 2020
Source: Okinawa Institute of Science and Technology (OIST) Graduate University Attention-deficit hyperactivity disorder (ADHD) is a neurobiological disorder characterized by symptoms of hyperactivity, inattention and impulsivity. People with the condition are often prescribed a stimulant drug called methylphenidate, which treats these symptoms. However, scientists do not fully understand how the drug works.
Now, researchers at the Okinawa Institute of Science and Technology Graduate University (OIST) have identified how certain areas of the human brain respond to methylphenidate. The work may help researchers understand the precise mechanism of the drug and ultimately develop more targeted medicines for the condition.
Previous research suggests that people with ADHD have different brain responses when anticipating and receiving rewards, compared to individuals without ADHD. Scientists at OIST have proposed that in those with ADHD, neurons in the brain release less dopamine — a ‘feel-good’ neurotransmitter involved in reward-motivated behavior — when a reward is expected, with dopamine neurons firing more when a reward is given.
“In practice, what this means is that children, or even young adults, with ADHD may have difficulty engaging in behavior that doesn’t result in an immediate positive outcome. For example, children may struggle to focus on schoolwork, as it may not be rewarding at the time, even though it could ultimately lead to better grades. Instead, they get distracted by external stimuli that are novel and interesting, such as a classmate talking or traffic noises,” said Dr Emi Furukawa, first author of the study and a researcher in the OIST Human Developmental Neurobiology Unit, led by Professor Gail Tripp.
Scientists believe that methylphenidate helps people with ADHD maintain focus by influencing dopamine availability in the brain. Therefore, Dr Furukawa and her colleagues set out to examine how the drug affects a brain region called the ventral striatum, which is a vital component of the reward system and where dopamine is predominantly released.
“We wanted to take a look at how methylphenidate affects the ventral striatum’s responses to reward cues and delivery,” said Furukawa.
The study, which was recently published in the journal Neuropharmacology, was jointly conducted with scientists at D’Or Institute for Research and Education (IDOR) in Rio de Janeiro, Brazil. The collaboration allowed the researchers to combine expertise across multiple disciplines and provided access to IDOR’s functional magnetic resonance imaging (fMRI) facility.
Delving into the brain
The researchers used fMRI to measure brain activity in young adults with and without ADHD as they played a computer game that simulated a slot machine. The researchers scanned individuals in the ADHD group on two separate occasions — once when they took methylphenidate and another time when they took a placebo pill. Each time the reels of the slot machine spun, the computer also showed one of two cues, either the Japanese character み (mi) or そ (so). While familiarizing themselves with the game before being scanned, the participants quickly learned that when the slot machine showed み, they often won money, but when the slot machine showed そ, they didn’t. The symbol み therefore acted as a reward-predicting cue, whereas そ acted as a non-reward-predicting cue.
The researchers found that when individuals with ADHD took the placebo, neuronal activity in the ventral striatum was similar in response to both the reward predicting and non-reward predicting cue. However, when they took methylphenidate, activity in the ventral striatum increased only in response to the reward cue, showing that they were now able to more easily discriminate between the two cues.
The researchers also explored how neuronal activity in the striatum correlated with neuronal activity in the medial prefrontal cortex — a brain region involved in decision-making that receives information from the outside world and communicates with many parts of the brain, including the striatum.
When the individuals with ADHD took placebo instead of methylphenidate, neuronal activity in the striatum correlated strongly with activity in the prefrontal cortex at the exact moment the reward was delivered, and the participants received money from the slot machine game. Therefore, the researchers believe that in people with ADHD, the striatum and the prefrontal cortex communicate more actively, which may underline their increased sensitivity to rewarding external stimuli. In participants who took methylphenidate, this correlation was low, as it was in people without ADHD.
The results implicate a second neurotransmitter, norepinephrine, in the therapeutic effects of methylphenidate. Norepinephrine is released by a subset of neurons common in the prefrontal cortex. Researchers speculate that methylphenidate might boost levels of norepinephrine in the prefrontal cortex, which in turn regulates dopamine firing in the striatum when rewards are delivered.
“It’s becoming clear to us that the mechanism by which methylphenidate modulates the reward response is very complex,” said Furukawa.
Tailoring New Therapies for ADHD
Despite the complexity, the scientists believe that further research could elucidate methylphenidate’s mechanism of action, which could benefit millions of people worldwide.
Pinning down how methylphenidate works may help scientists develop better therapies for ADHD, said Furukawa. “Methylphenidate is effective but has some side effects, so some people are hesitant to take the medication or give it to their children,” she explained. “If we can understand what part of the mechanism results in therapeutic effects, we could potentially develop drugs that are more targeted.”
Furukawa also hopes that understanding how methylphenidate impacts the brain could help with behavioral interventions. For example, by keeping in mind the difference in brain responses when children with ADHD anticipate and receive rewards, parents and teachers could instead help children with ADHD stay focused by praising them frequently and reducing the amount of distracting stimuli in the environment.
Materials provided by Okinawa Institute of Science and Technology (OIST) Graduate University. Original written by Dani Ellenby. Note: Content may be edited for style and length.
Emi Furukawa, Raquel Quimas Molina da Costa, Patricia Bado, Sebastian Hoefle, Paula Vigne, Myriam Monteiro, Jeff R. Wickens, Jorge Moll, Gail Tripp, Paulo Mattos. Methylphenidate modifies reward cue responses in adults with ADHD: An fMRI study. Neuropharmacology, 2020; 162: 107833 DOI: 10.1016/j.neuropharm.2019.107833