Tag Archives: Brain Growth

Question?: Autism Symptoms In Infants

George asks…

What are the symptoms of a child with autism?

how do you know your child is autistic?

admin answers:

If your baby otherwise seems to be growing and developing normally, then that is probably not a sign of autism. Among other normal developmental milestones that you would expect at this age include that your baby smiles, is usually comforted or soothed when she is picked up, follows objects past the midline of her face, make ‘ooo’ and ‘aah’ type cooing noises, and maybe has begun laughing. You should definitely discuss it with your Pediatrician if you don’t think your baby’s behavior is normal though.

The symptoms you describe could also be seen in infants with high muscle tone, especially if her muscles usually seem extra stiff. This is something that you should also discuss with your Pediatrician, but it isn’t really related to autism at all.

Among the early signs and symptoms that parents and Pediatricians look for to alert them that a child needs further evaluation for autism include:

* not smiling by six months of age
* not babbling, pointing or using other gestures by 12 months
* not using single words by age 16 months
* not using two word phrases by 24 months
* having a regression in development, with any loss of language or social skills

Infants with autism might also avoid eye contact, and as they get older, act as if they are unaware of when people come and go around them, as you can see in this autism screening quiz.

Keep in mind that autism usually isn’t diagnosed until about age 3, although some experts believe that some children begin to show subtle signs as early as six months of age.

There is also an autism study that showed that some children with autism had abnormal brain growth. Specifically, they had a smaller than average head size at birth (at the 25th percentile), but then had a period of rapid head growth during which their head size moved up to the 84th percentile by age 6-14 months. But rapid head growth is not a sign in all kids with autism.

In general, if you are concerned about your child’s development, especially if you think that they might have autism, you should talk to your Pediatrician and consider a more formal developmental evaluation.

And keep in mind that when a child arches her back a lot, it can be a sign of gastroesophageal reflux (Sandifer Syndrome), although you would usually expect other symptoms, like spitting up and being fussy.
Getting An Evaluation
One of the frustrating things that occurs when parents think something is wrong with their child’s development is that they may be told ‘not to worry’ or that they ‘should just wait.’ Experts think that it is better for parents to trust their instincts and get their child evaluated if they think that they aren’t developing normally. This guide from First Signs is a good resource for parents trying to share their concerns with their Pediatrician.

Your local early childhood development program may also be able to do an evaluation if you are concerned about your child’s development.

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Question?: Rett Syndrome Genetics

Nancy asks…

what is autism?

like how do you get it, what happens when you have it?
what is it?

admin answers:

Autism (sometimes called “classical autism”) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autism is characterized by impaired social interaction, problems with verbal and nonverbal communication, and unusual, repetitive, or severely limited activities and interests. Other ASDs include Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Experts estimate that one in 67 children will have autism. Males are four times more likely to have autism than females.

What causes autism?
Scientists aren’t certain what causes autism, but it’s likely that both genetics and environment play a role. Researchers have identified a number of genes associated with the disorder. Studies of people with autism have found irregularities in several regions of the brain. Other studies suggest that people with autism have abnormal levels of serotonin or other neurotransmitters in the brain. These abnormalities suggest that autism could result from the disruption of normal brain development early in fetal development caused by defects in genes that control brain growth and that regulate how neurons communicate with each other. While these findings are intriguing, they are preliminary and require further study. The theory that parental practices are responsible for autism has now been disproved.

How is autism diagnosed?
Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when it is masked by more debilitating handicaps. Doctors rely on a core group of behaviors to alert them to the possibility of a diagnosis of autism. These behaviors are:
impaired ability to make friends with peers
impaired ability to initiate or sustain a conversation with others
absence or impairment of imaginative and social play
stereotyped, repetitive, or unusual use of language
restricted patterns of interest that are abnormal in intensity or focus
preoccupation with certain objects or subjects
inflexible adherence to specific routines or rituals.

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Importance of Early Detection of Autism Signs

Autism signs manifest themselves by the ages of two and three. A significant degree of awkwardness in certain developmental stages is the first signs that a child may be suffering from a developmental disorder within the autism spectrum. The child may seem not affectionate, antisocial, stubborn, and obsessive-compulsive. Usually the child suffering from autism sees the world in a different way. This disorder, like others, affects brain growth and development. It affects it from the time of birth and onwards. There is no cure for this disorder, in fact some people see it as more a difference than a disease of any sort. There are, of course treatment and therapy options that will allow the child to build the necessary skills for coping with the life they will be facing.

Signs of autism include the inability to effectively communicate with other people. This includes parents, teachers and peers. The reason being is that a child with symptoms of autism does not react or understand otherwise intuitive cues from environmental, emotional, and social stimuli. These children see the world in black and white. They are very literal in their understanding of things. Unfortunately, with all of the nuances and gray areas of communication and feeling this will often lead to misunderstandings and confusion. Overstress such as these can cause an autistic child to seem irritable, willful, and stubborn. They may throw tantrums and otherwise act unmanageable. This simply stems from their fear and confusion over something. Thus, this factor and their need to have a stable routine that is unhindered with change.

High functioning autistic experience the same symptoms but to a lesser degree. These individuals can pretty much live their lives as normally as possible with only the need and guidance from outside sources in some cases. Individuals with high functioning autism often only seem a little different and can fit in well amongst the crowds. The more severe the symptoms of autism, the harder it will be for a child or even an adult to live a normal life. This is why detecting signs of autism early is so important. The sooner we know about a child’s problem the sooner we can begin helping them to cope and live with it.

Treatment is available for people with autism and other disorders in that spectrum. There is not a cure, but therapy and special education classes can help a child learn skills and coping methods to handle his/her disorder throughout life. Acceptance of a child’s difference, patience and understanding with his difficulties, and an open mind at his/her view on life is essential for helping these children feel comfortable with the world around them. Feeling safe and comfortable with who they are and confident in how they can interact with other people is one of the most important aspects of dealing with these developmental disorders. And because autism signs present themselves early, it means that someone with this disorder will have quite a long time to develop these skills. Living with autism is difficult for everyone involved, but it is manageable.

For the latest videos and training information on child development as well as books and curricula on Autism please visit childdevelopmentmedia.com.

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Identification Of Gene Expression Abnormalities In Autism

Main Category: Autism
Also Included In: Genetics
Article Date: 23 Mar 2012 – 2:00 PDT

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A study led by Eric Courchesne, PhD, director of the Autism Center of Excellence at the University of California, San Diego School of Medicine has, for the first time, identified in young autism patients genetic mechanisms involved in abnormal early brain development and overgrowth that occurs in the disorder. The findings suggest novel genetic and molecular targets that could lead to discoveries of new prevention strategies and treatment for the disorder.

The study published in PLoS Genetics uncovered differences in gene expression between brain tissue from young (2 to14 years old) and adult individuals with autism syndrome disorder, providing important clues why brain growth and development is abnormal in this disorder.

Courchesne first identified the link between early brain overgrowth and autism in a landmark study published by the Journal of the American Medical Association (JAMA) in 2003. Next, he tested the possibility that brain overgrowth might result from an abnormal excess of brain cells. In November 2011, his study, also published in JAMA, discovered a 67 percent excess of brain cells in a major region of the brain, the prefrontal cortex – a part of the brain associated with social, communication and cognitive development.

“Our next step was to see whether there might be abnormalities of genetic functioning in that same region that might give us insight into why there are too many cells and why that specific region does not develop normally in autism,” said Courchesne.

In the new study, the researchers looked towards genes for answers, and showed that genetic mechanisms that normally regulate the number of cortical neurons are abnormal. “The genes that control the number of brain cells did not have the normal functional expression, and the level of gene expression that governs the pattern of neural organization across the prefrontal cortex is turned down. There are abnormal numbers and patterns of brain cells, and subsequently the pattern is disturbed,” Courchesne said. “This probably leads to too many brain cells in some locations, such as prefrontal cortex, but perhaps too few in other regions of cortex as well.”

In addition, the scientists discovered a turning down of the genetic mechanisms responsible for detecting DNA defects and correcting or removing affected cells during periods of rapid prenatal development.

Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings in the brain at young ages have remained largely unknown. Until now, few studies have been able to investigate whole-genome gene expression and genotype variation in the brains of young patients with autism, especially in regions such as the prefrontal cortex that display the greatest growth abnormality.

Scientists – including co-first authors Maggie Chow, PhD, and Tiziano Pramparo, PhD, at UC San Diego – identified abnormal brain gene expression patterns using whole-genome analysis of mRNA levels and copy number variations from 33 autistic and control postmortem brain samples. They found evidence of dysregulation in the pathways that govern cell number, cortical patterning and cell differentiation in the young autistic prefrontal cortex. In contrast, in adult patients with autism, the study found that this area of the brain shows dysregulation of signaling and repair pathways.

“Our results indicate that gene expression abnormalities change across the lifespan in autism, and that dysregulated processes in the developing brain of autistic patients differ from those detected at adult ages,” said Courchesne. “The dysregulated genetic pathways we found at young ages in autism may underlie the excess of neurons – and early brain overgrowth – associated with this disorder.”

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. Additional contributors include co-senior authors Nicholas J. Schork, PhD, biostatistician at The Scripps Research Institute in La Jolla, CA, and Anthony Wynshaw-Boris, professor of pediatrics at UC San Francisco; Mary E. Winn and Sarah Murray, The Scripps Research Institute; Lauren Weiss and Haim Belinson, UC San Francisco; Jian-Bing Fan and Craig April, Illumina, Inc.; Cynthia Carter Barnes, Hai-Ri Li and Xiang-Dong Fu, UC San Diego.
The research was supported by funds from the Simons Foundation, The Peter Emch Family Foundation, Autism Speaks, the Thursday Club Juniors and the UCSD-NIH Autism Center of Excellence.
University of California – San Diego Please use one of the following formats to cite this article in your essay, paper or report:


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