Early Signs of a Neurological Disorder

As a parent, you’re likely very aware of your baby’s early developmental milestones, such as eye contact, smiling and babbling. But there’s a good reason pediatricians recommend tracking your child’s milestones: The sooner you notice a delay, the sooner you can get the support your child needs.

In many cases, children with a developmental delay will catch up. In other cases, there could be an underlying neurological disorder causing the delays.

Identifying Developmental Delays in Young Children

Milestones are signs of normal development across emotional, behavioral, language, and fine and gross motor skills, explains Patricia Musolino, MD, PhD, pediatric neurologist at Massachusetts General Hospital. Sometimes, kids who are not meeting milestones as expected may have a developmental delay.

Neurodevelopmental diseases show signs early on—your child usually begins exhibiting symptoms in the first few months. However, you may not notice signs until milestones are missed. Neurodegenerative diseases, on the other hand, generally show signs later. These are characterized by a loss of acquired skills.

About 17 percent of all children in the United States have at least one developmental delay, meaning they aren’t reaching at least one milestone at the expected time, according to the U.S. Centers for Disease Control and Prevention (CDC). These usually appear early on in a child’s life, impact their daily functioning and often last throughout a person’s lifetime.

You know your child best. If your child isn’t meeting milestones, or if you have any concerns, talk to your pediatrician. They will know which milestones and behaviors are expected at your child’s age. Give them specific descriptions of what you’re seeing, or bring photos or videos.

When Cristina Vargas, a paralegal based in Syracuse, New York, noticed her son Juju seemed to have a speech delay at age 2, she took him to a speech and language pathologist. “I always knew it was something more,” she says, but her doctors weren’t investigating further. When he began having seizures at 3, a neurologist diagnosed Juju with epilepsy. Vargas still believed something else was causing his ongoing issues.

Juju Vargas
Credit: Christina Vargas | Juju Vargas

A year and a half later, after multiple emergency room visits for seizures, Vargas saw a different neurologist who ordered genetic tests. At age 4, Juju was diagnosed with CLN2-Batten Disease, a rare lysosomal storage disease that causes a loss of acquired developmental and intellectual skills.

In the world of rare diseases, Vargas’s delayed diagnosis isn’t uncommon.

When Do Doctors Suspect a Neurological Disorder?

It is often easier for your doctor to identify a possible underlying neurodegenerative disorder. This is seen when your child is acquiring skills at expected rates and then has a plateau or a regression. “The most important thing for a parent is to really look at your child and understand if you feel something has stopped or stagnated,” Musolino says. “If a baby was able to start sitting and use hands to stabilize, and then suddenly they cannot sit any longer, that’s concerning,” she adds.

It’s much more difficult for doctors to identify a neurodevelopmental disorder—when symptoms are present within the first or second month of birth—because there isn’t any history to consider. This can make it difficult for new parents as well, who don’t have other children for comparison.

“It can be a medical journey… and a lot of times, doctors aren’t thinking the child has a rare disease,” says Monica Islam, MD, a pediatric neurologist at Nationwide Children’s Hospital in Columbus, Ohio. “It’s a puzzle for the family, for their primary care provider, and sometimes, it may be a puzzle for the specialists.”

In fact, “if your child is showing signs early on, pediatricians often follow a ‘wait-and-see’ approach,” says Megan Nolan, a parent of a child with FOXG1 Syndrome and founder of Rare Parenting. They don’t necessarily recognize signs as having an underlying neurological cause.” This approach isn’t always what’s best for the child, she adds, as it can delay further neurological evaluation, and possibly treatments, that can make a difference for some children.

Your pediatrician may, however, refer your child to a federal program such as Early Intervention (EI) in the U.S. Professionals such as physical and occupational therapists, and/or a speech pathologist will evaluate your child to see if they exhibit delays. If so, your child may qualify for services.

If your child’s delays don’t resolve with EI, or progress is slower than expected, your doctor may then refer you to a neurologist for further evaluation. However, “if you suspect there could be an underlying cause, you can ask your pediatrician to refer you to a neurologist, or you can self-refer, even in the early months,” says Nolan. When it comes to your child, always trust your gut—waiting to see a neurologist could delay proper care, she says.

Signs of a Neurological Disorder

Signs of a neurological disorder usually include missed or regressed developmental milestones. These include:

  • Eye contact: your child may not fix their gaze on your eyes or on objects in the first few months, or look at you when you enter the room
  • Social skills: your child may not smile at you by the time they’re 2 months old or giggle by 6 months old
  • Communication skills: your child may not point or wave in the first year or doesn’t speak spontaneously in phrases by age 2
  • Cognitive skills: your child may not be able to follow directions like “sit down” or “come here” by 18 months
  • Gross and fine motor skills: your child may not sit without support by 9 months or pick up small objects (like food) between their thumb and pointer finger by 12 months

Other signs may include:

  • Excessive crying that is not helped by comforting
  • Constant irritability
  • Difficulty feeding
  • Acid reflux (a baby may arch their back after feeding)
  • Teeth grinding
  • Severe constipation or difficulties with bowel movements
  • Eye crossing, called a “squint” in certain countries, that doesn’t resolve after 6 months of age
  • Low muscle tone (muscles that are weak or floppy)
  • Abnormal movements of arms and legs that interfere with purposeful movement
  • Inability to fall asleep or stay asleep for long periods
  • Inability to communicate or talk, or limited communication skills
  • Microcephaly (small head size) or macrocephaly (large head size)
  • Seizures

Trust Your Instincts

In many cases, getting the proper diagnosis starts with a gut feeling on the part of the parent. By the time her son Will, now 13, was 9 months old, “I knew something wasn’t right,” says Lauren Perry of Loveland, Colorado. He wasn’t babbling, didn’t know words, and wasn’t trying to crawl—all milestones she tracked in her older son Colin.

Will’s pediatrician took the “wait-and-see” approach. By 18 months, Will was walking but still not talking. “He was very agitated by certain sounds, and he would scream and cry whenever he was near another child fussing. “This was a big red flag for me,” she says.

Lauren and Will Perry
Credit: Lauren Perry | Lauren and Will Perry

Will saw a speech therapist to have his speech delay evaluated. At age 2, a developmental pediatrician diagnosed him with a global developmental delay. When he began having seizures, he underwent genetic testing, similar to Vargas.

At 6, He was diagnosed with SYNGAP1—a genetic disease that keeps the body’s nerve cells from functioning effectively.

Why You Might Want to Seek a Second Opinion

If you feel uncomfortable in any way, such as with a “wait-and-see” approach that goes against your gut feeling, you should ask for further evaluation. Sometimes, you may feel your questions aren’t answered, or your child’s exam was rushed, or there’s a language barrier—in these cases as well, you should look for a second opinion to get another set of eyes on your child, suggests Dr. Musolino. “You can always say ‘I want a full evaluation’ or ‘I want a more thoughtful evaluation of my child’s development,’” she adds.

Most pediatricians, even if they disagree with a parent, should be open to referring a child to a neurologist, developmental pediatrician, or other specialist. “It’s part of their role to bring in someone else to reassure parents about their concerns,” she says.

If your instincts are telling you something isn’t right, it may be worthwhile to schedule an appointment with a neurologist for further evaluation that may lead to genetic testing and/or an MRI to look at the brain.

Genetic Testing

While you might think that you or someone in your close family needs to have a genetic disorder for your child to have one, that isn’t the case. “Many rare diseases are non-inherited, which means the genetic mutations do not show in mom and dad’s genes, or they are inherited but require both parents to have the mutations for symptoms to present in the child,” says Nolan.

This makes it difficult for the parents to know when to ask for genetic testing. “But the responsibility shouldn’t lie with the parents,” Nolan says. “We need more awareness of common signs and symptoms at the pediatrician-level so that more referrals to neurologists can take place,” she continues.

A neurologist may order a chromosomal microarray genetic test, which looks at the child’s chromosomes to see if anything is mutated, or changed, that could be causing symptoms. If this doesn’t show anything, they may order a specific genetic panel or more complex genetic testing called whole exome sequencing. “In cases of seizures coupled with other symptoms, a genetic test called an epilepsy panel is ordered, which covers most rare diseases associated with seizures,” says Nolan.

Cheryl Herbert, vice president of marketing for the National Organization for Rare Disorders (NORD), notes that it can take an average of five years or more for a child to be correctly diagnosed with a rare disease. This is often due to a delay in genetic testing, but there are cases of misdiagnoses, such as when a diagnosis of cerebral palsy or autism is given without first performing genetic testing.

Correct diagnosis is critical. It helps ensure your child will receive the proper available treatments or therapies, which may improve long-term outcomes. In some cases, there may even be an approved FDA drug or treatment available. And, you’ll often connect to a community of other parents with children who have the same diagnosis. This community, or a wider rare disease community, can offer help and support as you raise and care for your child.

Where to Get Support for Your Child’s Diagnosis

Once your child has received a diagnosis, “ask your doctor about referrals to other specialists your child may need, as you build your care team,” says Nolan. This may include a physical and occupational therapist, speech-language pathologist, ophthalmologist, gastroenterologist, and dietician, among others. “It can be very overwhelming, but over time you’ll find it helpful, and even crucial,” she adds.

You may also find a specific advocacy group for your child’s condition—the larger population groups, and some smaller ones, have one. Or, you just might be inspired to organize one yourself. Vargas founded the Juju and Friends CLN2 Warrior Foundation, Megan founded The Children’s Rare Disorders Fund for FOXG1 Syndrome, and Perry is now the operations manager of the SynGAP Research Fund. “While the community was small, we had many similarities to each other. It was easy to become involved with advocacy,” says Perry.

There are more than 10,000 known rare diseases, notes Cheryl Herbert, so most don’t have a patient advocacy group. To find support in these cases, parents can turn to places like NORD and Global Genes, both offering education and support. If your child has received genetic testing and remains undiagnosed, learn what to do next.

References and Further Reading:

Centers for Disease Control and Prevention, 2023, CDC’s Developmental Milestones

Centers for Disease Control and Prevention, 2023, Learn the Signs, Act Early

Cleveland Clinic, 2023, Developmental Delay in Children

Environmental Protection Agency, 2015, Neurodevelopmental Disorders

Murdoch Children’s Research Institute, n.d., Neurodegenerative Disorders

National Institutes of Health, 2023, Degenerative Nerve Diseases

Centers for Disease Control and Prevention, 2023, CDC’s Work on Developmental Disabilities

Centers for Disease Control and Prevention, 2023, Concerned About Your Child’s Development?

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  1. Does anyone have a child with CLTC-RELATED ID Chromosome diagnosis that resides on Long Island, NY
    I would like to communicate with you. It’s my understanding that only 32 children in the US have this diagnosis.

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