Where do I begin?

Visit www.m-chat.org

M-CHAT is designed to be administered by parents/guardians and interpreted by pediatric providers in the context of developmental surveillance. The online version at M-CHAT.org is approved by the M-CHAT authors.

M-CHAT is a set of questions that can assess if your child is at high risk for autism spectrum disorder or other developmental conditions.

 

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If your child might have delayed development Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: First steps to take if you think your child might have delayed development

If a parent thinks their child has delayed development, they should act immediately. See a trusted healthcare provider who is familiar with that child and share their specific concerns, whether it's missing milestones, or being behind in their speech development.

Take the m-chat evaluation

One thing a family can do if they have concerns about their child's development is use an online screening tool, which can provide an initial unbiased assessment. The M-CHAT.org website is a great option. Parents can take a brief 23-question test and quickly find out if their child has a high or low risk for autism spectrum disorder.

While the M-CHAT assessment is specifically designed to evaluate people for autism, it can function as a more generalized developmental screen as well. Once you have the results, it's important to bring the evaluation to the provider, talk about your concerns, and plan on next steps.

Lineagen® is one laboratory that can provide not only a genetic test specific for developmental delay, but also education and support through genetic counseling for the doctor and for the family.

If your child may be delayed Julie Cohen ScM Certified Genetic Counselor Dept. of Neurology
and Developmental Medicine, Kennedy Krieger Institute

Read More: First steps if you are concerned your child may be delayed

As a parent, if you become concerned about your child's development, that he or she isn't meeting the same milestones as maybe other same age children, the first thing to do is talk to your pediatrician.

Let the pediatrician know what your concerns are and what you feel like your child's abilities are right now. Also, you can discuss what you feel your child's abilities should be. The pediatrician can give you guidance on whether the child is really behind or if he or she is within the range of what is considered typical.

Speak to your pediatrician

I would encourage that the first step is to speak with the pediatrician. Sometimes it's the pediatrician who is the first to raise concern. It is common for first-time parents to not really know what's typical development, and that is okay.

That interaction between the parent and the pediatrician can give guidance on what would be the next step for further evaluation. The next step might be an evaluation by a specialist such as a developmental pediatrician.

Evaluation by a specialist

A developmental pediatrician does just what it sounds like; it is a pediatrician who specializes in child development. Sometimes a pediatric neurologist or an early intervention state program may evaluate a child's developmental milestones.

A specialist evaluation can give a more objective assessment on where the child is at in meeting his or her developmental milestones. Depending upon the evaluation, a specialist may diagnose the child with developmental delay.

Finding appropriate therapies

A specialist can also provide guidance on the next steps after a formal evaluation. One commonly recommended pathway is therapy, which can be one of the most important next steps. Therapies can help the child reach milestones, identify specific challenges, and help overcome their challenges.

At the same time as a formal developmental evaluation may take place, the doctor may try to identify the underlying medical reason for why a child is not meeting his or her milestones. Diagnoses like developmental delay and autism are clinical diagnoses made from observing a child in a clinical setting. These clinical diagnoses describe a set of symptoms.

Diagnosis of developmental delay doesn't tell you why the child is delayed

A diagnosis of developmental delay doesn't tell you why the child is delayed. There can be many reasons. Often there is a genetic or a medical reason, both of which can be important to try figure out.

The "diagnostic odyssey"? Julie Cohen ScM Certified Genetic Counselor Dept. of Neurology
and Developmental Medicine, Kennedy Krieger Institute

Read More: What is the "diagnostic odyssey"?

The path to receiving a diagnosis can be a long one for families. We often refer to it as a “diagnostic odyssey.” I've heard many stories of parents being referred from one specialist to another, getting recommendations for test after test, dealing with insurance barriers.

Getting an accurate genetic diagnosis is critical

This can be a long process, but I encourage families to stick with it because getting an accurate diagnosis and an accurate answer as to the cause of your child's developmental delay can be important for children.

Availability of specialist evaluations and access to genetic services can vary widely depending on where you live. Whether you're near a major city or a more rural area, there can be a long wait to see a specialist, sometimes months. That's always hard because as a parent, you want your child to get help right away. Additionally, families might have to travel far, which can be a burden.

However, while you're waiting to see a specialist, your child still could be receiving therapies or services. There are state program for infants and toddlers where children can start getting therapies and services right away even if they haven't see a specialist. This can be a parallel path while establishing the underlying diagnosis.

Sometimes despite all of our best testing, our most advanced genetic tests, we can never find out the underlying cause right now. But even without knowing what the cause of the delay is, your child can still be helped by receiving therapies.

Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: What if my pediatrician says “Let’s wait and see”?

A very common question our genetic counselors hear from parents who have children that are showing symptoms of developmental delay is why their doctor continues to suggest that they “watch and wait” rather than get formal developmental evaluation. I have heard from parents who have waited a year or more before their healthcare provider opts to suggest further evaluation.

Parents can stand up for their child

It's unfortunate, but some doctors will say, "Let's just see how things go and wait until the next visit to see if your child has caught up." We want parents to know that it's okay for them to stand up for their child and do what they feel is right.

In order to get further evaluation some families may need to get a second opinion from a different doctor, and that's okay. It's important for you to have a provider that hears your concerns and will address those concerns with you in a timely manner.

The window of opportunity is critical

We encourage parents who believe their child is behind in critical milestones to tell your doctor you're not comfortable waiting and that you want to act now. Time spent waiting is important time that could be lost for you and your family, in terms of better understanding your child's development and seeking treatment.

Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: Early intervention is critical for success

A lot of parents will ask what age is most appropriate for genetic testing and their really is no right answer for that. If there is a concern for a individual's development, they should be tested, whether they are a few months old or an adult.

However, while it is a good thing to get testing at any age, the earlier someone is tested, the greater the impact the resulting therapy will be. There are biological reasons for this, but there are also very practical reasons. For instance, one reason to get an early diagnosis is that many different states have an early intervention program if children have tested positively for global developmental delay, autism disorder spectrum (ASD), or intellectual disability.

Genetic diagnosis will qualify children for early intervention programs

Some states call these "Zero-to-Three" or early intervention programs and they provide developmental services that can supplement a child's development and learning, sometimes at no cost.

In many cases, a child won't qualify for those services based solely on clinical diagnosis -- a doctor's in-person evaluation of the child. Having a genetic diagnosis – a diagnosis provided by a genetic test -- may actually allow that child to qualify for services early, so a test result can be valuable to parents.

Behavioral therapies are most effective when a child is young

In addition, research has show that behavioral therapies, such as applied behavioral analysis (ABA), can really help a child overcome his or her disabilities if applied early.

When children are young and in a rapid phase of development, they can really make huge improvements, sometimes 180 degree turns and learn new skills that they otherwise wouldn't have learned. Later in life, however, it can be much more difficult to gain those new skills.

Rena Vanzo MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.

Read More: Suggesting genetic testing to your doctor

In addition to seeing a different doctor for a second opinion, a family that has concerns about their child's development could request that their doctor order a Chromosomal Microarray (CMA) test such as the Lineagen FirstStepDx PLUS® CMA test.

It is a very easy test for your doctor to order. There's one test order form and sample collection is done through a cheek swab, so there isn't a painful blood draw for a child. Lineagen has a team of genetic counselors who will contact the doctor on your behalf and help explain what the chromosomal microarray service entails.

Your doctor may be hesitant to try a new test

Many doctors are hesitant to order a new genetic test, because they've never done it before and because the insurance process can be so complex. Lineagen handles both the testing and the related insurance tasks for the doctor and for the family. We have brochures that can be taken into a doctor's office that families can use to help ask for the service.

Another thing families can do if they have concerns about their child's development is to take the M-CHAT online. M-CHAT stands for the Modified Checklist for Autism in Toddlers. It's a 23-question screen and it asks very simple questions about a child's development.

M-CHAT evaluation is simple to do

The M-CHAT evaluation can be done by anyone. The questions are simple, such as: Does your child look when you point? Does your child laugh when you bounce him on your knee? These are questions any parent would easily be able to answer. The outcome of the M-CHAT will tell you whether your child has a high or low risk for autism spectrum based on the answers to these questions.

Many families have taken the M-CHAT report to their physician and said, “I'm not comfortable overlooking these concerns, because I have an approved screen that demonstrates my child is behind.” So M-CHAT.org is one website that can provide help for parents to raise concerns with their child's doctors.

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If a parent thinks his/her child has delayed development, he/she should act immediately and see a trusted healthcare provider who is familiar with that child and share the specific concerns.
Rena Vanzo
MS, LCGC Licensed & Certified Genetic Counselor,
Vice President, Clinical Services, Lineagen, Inc.