If you and your family are navigating the path that leads to diagnosis and/or treatment of your child’s neurologic disorder, you may very well feel lost and alone. But, please know that the entire child neurology community is here to support you every step of the way. That’s why the Child Neurology Foundation has partnered with healthcare providers, advocates, and industry to create this child neurology Disorder Directory. It is intended to serve as a road map whereby you can connect to the appropriate partner within the child neurology community who can assist you in addressing your needs as a patient or caregiver, no matter where you find yourself on the journey.
Our aim is threefold: 1. To provide you with credible educational information about specific diseases through articles written by child neurologists for patients and caregivers; 2. To share stories from families whose children have the same diagnosis you face; 3.To provide links to disease-specific advocacy and support groups where additional support and resources are available to you.
With that said, we encourage parents of children with neurologic disorders to consider themselves equal partners in every aspect of their child’s care. You are your child’s most critical resource. Not even the best doctors have your vantage point, since you are with your child every day, observing, recording, and sensing subtle nuances of their condition.
And while the Internet is beneficial, people may ultimately be your most important resource. This can include not only experts such as your child’s neurologist and other healthcare providers, but people who simply listen without judgment or feedback. If you don’t have any of these people in your life, seek out a support group in your community or online. Social media allows families navigating the same diagnosis to connect and support one another.
So, we welcome you to explore this Disorder Directory, ask questions, and provide feedback via this link. If you are a provider or advocate, we encourage you to link these pages to your organization’s website and share them with your patients and/or constituents. We’ve done our best to research and vet the resources included on these pages. Have we missed a trustworthy resource or organization? Please do not hesitate to share it with us. We’ll have our experts review it, and we will add it in the resources section as appropriate. Finally, this information is not intended to serve as medical advice. You should always discuss your child’s care with your pediatric neurologist.
Elizabeth E. Gilles, MD
Inﬂicted head injury, commonly called shaken baby syndrome, is a preventable form of traumatic brain injury resulting from assault that occurs typically, but not exclusively, in infants and young children less than 3 years of age. These injuries are the result of actions of parents or other caregivers. There are significant medical-legal issues that are not typical for most neurologic diseases.
David E. Mandelbaum, MD, PhD
Attention-deficit–hyperactivity disorder (ADHD) has been described as the most common neurobehavioral disorder in childhood. Neurologists make this diagnosis based on criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
Shafali Spurling Jeste, MD, PhD
Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders defined by difficulties in social interaction and communication and the presence of repetitive behaviors or restricted areas of interest.
Sarah Roddy, MD
Breath-holding spells are involuntary episodes in children (triggered by pain, fear, or upset) where the child turns pale or blue, and loses consciousness.
Kenneth F. Swaiman, MD
Cerebral palsy consists of a group of brain disorders involving movement and posture causing limitation of activity. The condition is most commonly evident in the early months of life, but usually dates back to the neonatal period.
CTD is an X-linked inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with CTD may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.
Peter Camfield, MD & Carol Camfield, MD
Epilepsy in children is a complex brain disorder for which a cause can still only be assigned in about one-half of patients. The cause is usually not preventable. The diagnosis of epilepsy can be made only with a reported description of two or more unprovoked seizures. About 50% of children outgrow their epilepsy, while for 50% the disorder continues into adulthood.
Mary Zupanc, MD & Andrew Mower, MD
When a patient is diagnosed with epilepsy, it means that the child had two or more seizures for no known reason. About 1% of people have epilepsy. Many patients (about 70%) will have good seizure control with medication. Certain types of seizures will stop on their own over time. Unfortunately, about 30% of children with epilepsy will continue to have seizures even while taking medicine. Epilepsy surgery should be an option for treating epilepsy in these children who have difficult to control seizures. It is not an avenue of “last resort”.
Ruth C. Shinnar, RN, MSN & Shlomo Shinnar, MD, PhD
Febrile seizures, the most common form of childhood seizures (2-5 % of children), are a form of acute symptomatic seizures. They are most common between the ages of 6 months and 3 years, with peak incidence at approximately 18 months of age. Onset after the age of 7 years is uncommon.
Samiya Ahmad, MD & Yu-Tze Ng, MD, FRACP
A seizure is a brief abnormal and uncontrollable electrical discharge from the brain. It can lead to a clinical phenomenon of shaking or stiffening, thought disturbance, or a mixture of both. If seizures recur, this condition is called epilepsy. When seizures come from the same part of the brain every time, they are called “focal onset” or “partial” seizures. If the seizures start from several different areas of the brain, they are called “multifocal onset” seizures. If consciousness (awareness) is maintained during the seizure, this is termed simple partial seizure. If consciousness is lost, then it is called a complex partial seizure.
Article in development. For more information, visit the Genetics Home Reference page, a service of the U.S. National Library of Medicine: https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome
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Carl J. Crosley, MD
In a simplistic sense, headaches are a continuous pain in the head. However, in reality, almost all headaches are pain on the head. In order to know how to best help a child experiencing headaches, it is important for parents to pay attention to the characteristics of the headache.
Claudia A. Chiriboga, MD, MPH
Immunization programs are most perhaps the most important public health initiative in which a country can invest as they are designed to protect children, the most vulnerable members of our population. As parents it is important to have a full understanding of the possible complications of vaccines, less we allow fear to guide us. Herein, I provide a framework that will provide information to guide parents in this endeavor.
Don Shields, MD
Infantile spasms (IS) is a rare seizure disorder (Only about 2,500 children in the US are diagnosed each year) that occurs in young children, usually under one year of age. The average age of onset is around four months, but some children may experience spasms as early as one month.
Eric H. Kossoff, M.D.
The use of dietary therapies for epilepsy has been helpful for many children with difficult to control seizures over the past 100 years. Several epilepsy centers have established ketogenic diet clinics to provide patients with a multidisciplinary setting in order to evaluate if the ketogenic diet is an appropriate option for the individual and his/her family. Studies show that about half of children will have at least half of their seizures reduced, often then leading to less medication. It is helpful for refractory epilepsy due to GLUT1 deficiency, PDH deficiency, infantile spasms, Doose syndrome, and Dravet syndrome. In addition, many side effects are now preventable with supplements.
Doris Trauner, MD
Developmental language disorders (DLDs) – also called Specific Language Impairment (SLI) – include a group of conditions that cause a child to have difficulty speaking or communicating in a typical manner. Some children with DLD have problems with understanding what other people mean when they are talking. They may occur in up to 10% of children, although estimates of how often this condition occurs vary from 1-11% of children.
Lawrence W. Brown, MD
Lennox-Gastaut syndrome (LGS) is a severe childhood form of epilepsy defined by multiple, often medication-refractory seizures (usually “drop attacks”, atypical absence seizures and tonic seizures), a characteristic EEG pattern (slow waking background, slow spike wave) and paroxysmal fast rhythms in sleep) as well as cognitive, behavioral and psychiatric symptoms.
Amy Goldstein, MD
Mitochondrial disease refers to several hundred genetic diseases caused by mutations (or changes) in either mitochondrial DNA or nuclear DNA. These mutations affect the ability for the mitochondria to properly function within a cell. Mitochondria are tiny organelles present in nearly every cell. They are unique in that they have their own DNA, called mitochondrial DNA (mtDNA). One role of the mitochondria includes making energy, or adenosine triphosphate (ATP), for every cell to function. If there is a mutation in the genes that code for mitochondrial proteins, decreased ATP production leads to energy failure of the cell and, eventually, to the organ. Many different organs may be involved. In general, the organs that require the most ATP are the ones with symptoms.
Anne Connolly and Michele Yang
Motor neurons are the cells in the spinal cord and brainstem that control voluntary muscle movement. When these cells are damaged, the muscles become weak and get small (atrophy). The muscles of the arms and legs are often involved, and even muscles of breathing and swallowing can be involved.
Bruce R. Korf, MD, PhD
Neurofibromatosis type 1 (NF1), was referred to in the past as “von Recklinghausen disease” or sometimes as “peripheral neurofibromatosis.” The term NF1 is now preferred. It is a genetic disorder that can affect many systems of the body. The hallmark features are patches of brown pigmentation on the skin (café-au-lait spots) and benign tumors that arise from the tissue that surrounds nerves (neurofibromas). Neurofibromas can cause cosmetic problems, disfigurement, and, in some cases compression of critical structures such as the airway or the spinal cord.
Margaret Semrud-Clikeman, PhD
Neuropsychological assessment is designed to provide insight into how a child solves problems, can remember information both in the short and long-term, uses and understands language, processes information both visually and orally, and is able to use cognitive ability in a flexible manner. It is designed to provide parents, educators, and medical personnel not only with what the child knows, but how the child thinks and arrives at solutions. It encompasses cognitive ability as well as emotional and behavioral regulation assessment. Children can have difficulty for many different reasons and a neuropsychological evaluation provides a window into understanding what is problematic, what is a strength, and also treatment recommendations.
Amy Goldstein, M.D.
Peroxisomal disorders are a large group of genetic disorders (some can also be considered “inborn errors of metabolism”). These conditions vary in symptoms and age of onset. However, they share a problem with the functioning of the peroxisome.
Suresh Kotagal, MB, BS
Complaints about insufﬁcient or unrefreshing sleep are common in children. In one survey 28% of them experienced snoring, insomnia, or episodes of unusual behaviors during sleep. Childhood sleep disorders can have a signiﬁcant effect on quality of life. Also, many disorders are treatable. This fact underscores the importance of proper recognition and therapy.
Wendy Mitchell, MD
Children and adolescents with epilepsy have behavioral and learning problems more often than their peers. Adults who had epilepsy as children may continue to have social and occupational problems, even if seizures are controlled or are gone. Children and adolescents with epilepsy and adults who had childhood-onset epilepsy may have increased incidence:
poor educational attainment
lower-than-expected occupational status
higher rates of social isolation
These difficulties have multiple causes, and may not be a direct consequence of the epilepsy or its treatment. Neither epilepsy nor the seizures themselves are generally the most important cause of cognitive or behavioral problems. The underlying causes of cognitive and behavioral dysfunction may be subtle or obvious. The cause of the seizures may also be the cause of the other difficulties.
Adam Kirton, MD, MSc, FRCPC
Stroke is brain damage that occurs secondary to the blockage or breakage of blood vessels in the brain. The causes of stroke in children are many and often not well understood. Diagnosis requires careful clinical examination combined with brain imaging. Early treatment focuses on protecting the brain and keeping blood vessels open to prevent more strokes. Most children experience neurologic deficits with long-term treatments focused on physical, developmental, and psychosocial complications. The study of pediatric stroke has been growing rapidly, from understanding the main causes to supporting children and families.
Harvey S. Singer, MD
Tic disorders, including the most widely known Tourette syndrome (TS), are neurobehavioral disorders that begin in childhood or adolescence. The primary feature of each of these entities is the presence of motor and/or vocal tics. Although these disorders are common, there remains an ongoing search for a clearer understanding of their etiology and neurobiology. The impact of tics can be quite variable, ranging from minimal to devastating, depending on their psychosocial and physical impact. Tics rarely appear in isolation. Other coexisting conditions may include attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and anxiety. Behavioral disinhibition is a more significant source of difficulties than the tics. Specific pathways within the brain have been implicated (cortico-striatal-thalamo-cortical). However, the exact location and underlying mechanism remain unclear. Education of the patient and family is an essential part of therapy. There is no cure for tics. A variety of behavioral therapies and pharmacological agents and have been used successfully to suppress tics.
Martina Bebin, M.D.
Tuberous Sclerosis Complex (TSC) was originally described in 1862. Clinicians’ understanding of this genetic disorder has evolved significantly over the last 150 years. It is a genetic disorder that can affect every organ system in the body and has significant variability in how it appears. The most common manifestation of TSC is the presence of benign tumors involving the skin, brain, kidneys, lung, and heart. These lesions may grow over time and cause clinical symptoms that deserve medical management and intervention when appropriate. Clinical symptoms associated with TSC can impact an individual’s quality of life. The lesions are most commonly associated with the brain resulting in seizures, developmental delay, intellectual disability, and autism. The disease manifestations of TSC can vary. The implementation of TSC genetic testing has made a significant impact in the accuracy of confirming the diagnosis, particularly in mildly affected individuals.