Finding the Right Specialists and Therapies
An RNU2-2 diagnosis can explain a great deal, but it cannot predict every need a person will have. Research into ReNU2 is still evolving, and families are helping clinicians recognize aspects of the condition that have not yet been fully studied.
Published research describes developmental differences, epilepsy, hypotonia, hyperventilation, and movement disorders in some people with RNU2-2-related disorders. Families also report concerns involving vision, communication, feeding, sleep, and other areas of daily life. The right evaluations depend on the individual, not on a list of every possible condition.
Use the sections below to identify concerns to discuss with your child’s primary clinician and to find professionals with relevant experience.
This website provides general information and resources. It does not provide medical advice and is not intended to replace the care, diagnosis, or guidance of your child’s physicians and medical specialists. Always follow the advice of the clinicians who know your child and their medical history. If your child is experiencing a medical emergency, call 911 or your local emergency number immediately.
Vision and cerebral visual impairment (CVI)
Some ReNU2 families report that their children have cerebral or cortical visual impairment (CVI). We do not yet know how common CVI is in RNU2-2-related disorders.
CVI affects how the brain processes visual information. A child may see an object in one setting but struggle to find it against a busy background, have difficulty recognizing faces, look away while reaching, or use vision inconsistently. An examination of the eyes alone may not fully explain these difficulties. CVI expertise varies among eye care professionals, so a routine eye appointment may not answer a family’s concerns.
Who may help: Ask your child’s clinician for a referral to a pediatric ophthalmologist or neuro-ophthalmologist with specific experience evaluating CVI. Some other clinicians, including optometrists with CVI expertise, also evaluate and diagnose it; the crucial question is whether the individual provider has that experience. A teacher of students with visual impairments can help translate the findings into practical support at school.
Helpful resources:
Perkins CVI Doctor Directory — a starting point for finding clinicians who may be able to evaluate and diagnose CVI. The directory is a work in progress, and inclusion is not an endorsement.
CVI Now Resource Center — information for families about recognizing CVI and supporting visual access.
A question to ask: “My child’s vision seems inconsistent, and their eye examination does not explain what we see at home. Can you refer us to someone who specifically evaluates CVI?”
Speech, language, and communication
People with ReNU2 communicate in many ways: speech, signs, gestures, facial expressions, pictures, communication devices, or a combination of these. A speech-language pathologist (SLP) can assess how a person communicates, what they understand, and which supports help them express themselves.
Many families in our community describe children who use familiar phrases, songs, or lines they have heard before. Some families and SLPs describe this as gestalt language processing: learning and using larger chunks of language before using smaller parts more flexibly. A repeated phrase may have a meaning that is not obvious to someone who does not know the child. Families report that clinicians who listen for that meaning and build on it have helped their children communicate. ASHA advises SLPs to consider the communicative function of echolalia when evaluating and supporting language.
We do not yet have research establishing how common this language pattern is in ReNU2. An SLP should get to know the individual child’s communication rather than assume that one description or therapy approach fits everyone.
If speech does not meet all of someone’s needs, ask about augmentative and alternative communication (AAC). AAC may include signs, pictures, or a speech-generating device, and it can be useful for someone who already speaks.
Helpful resources:
Communication Development Center: Language — a parent-friendly introduction to gestalt language development.
Meaningful Speech: Free Resources — handouts and practical information about echolalia and supporting children who use scripts or longer phrases.
ASL University: 100 First Signs — free demonstrations of everyday American Sign Language signs that children and caregivers can learn together. ASL is one option; an SLP can help choose signs that are useful and accessible for your child.
A question to ask: “When my child uses a repeated phrase or song, how will you work out what they mean and help them build on it?”
Seizures and epilepsy
Epilepsy is a prominent feature in published RNU2-2 studies, although seizure types, frequency, and severity differ between individuals. A pediatric neurologist or epileptologist can evaluate possible seizures, review treatment, and help the family plan for emergencies.
If your child has seizures, ask their neurologist for a written seizure action plan. It should tell caregivers and school staff what to do during a seizure, when to give prescribed rescue medication, and when to call for emergency help.
Helpful resources:
A question to ask: “Which events should we record, and does our action plan clearly cover prolonged seizures and other emergencies?”
Movement disorders, muscle tone, and mobility
Many ReNU2 families report movement concerns. Some published studies also describe movement disorders. Other movement concerns may include unsteady walking, unusual postures, repetitive movements, stiffness, or low muscle tone. These descriptions do not mean that every unusual movement has the same cause—or that it is necessarily a seizure.
Who may help: Start with your child’s pediatric neurologist. Depending on the concern, ask whether an evaluation by a pediatric movement disorder specialist would be useful. A physical therapist (PT) can assess balance, walking, strength, and mobility; an occupational therapist (OT) can help with hand use and everyday activities.
A short video of the movement, together with notes about when it happens, how long it lasts, and whether your child remains responsive, can help a clinician assess it. Tell the clinician if the movement is new, worsening, painful, or affecting sleep, walking, or daily activities.
Helpful resources:
International Parkinson and Movement Disorder Society: Specialist Finder — ask whether a listed clinician evaluates children.
A question to ask: “Does this look like a seizure, a movement disorder, or something else? Would a pediatric movement specialist’s evaluation help?”
Breathing patterns and hyperventilation
Hyperventilation has been reported in published studies of RNU2-2-related disorders. It generally means episodes of breathing more rapidly or deeply than usual. Researchers and clinicians are still learning why these episodes occur and how they relate to other features of ReNU2. Assess breathing changes individually rather than assuming they are part of the genetic condition.
If you notice repeated episodes of rapid or deep breathing, pauses in breathing, or unusual breathing during sleep, tell your child’s pediatrician and neurologist. Note when it happens, how long it lasts, whether your child is awake or asleep, and whether there are changes in color, awareness, or movement. A video may help if it can be taken safely. The care team can decide whether a respiratory, sleep, or further neurologic evaluation is needed.
Seek urgent medical help for breathing difficulty, blue or gray coloring, or a significant change in responsiveness. Follow your child’s emergency and seizure plans where applicable.
Helpful resources:
A question to ask: “Could these breathing episodes be related to seizures, sleep, or another medical concern, and what should we do when one occurs?”
Feeding, swallowing, and digestion
If your child coughs or frequently chokes during meals, has trouble with food textures, takes a long time to eat, is not gaining weight as expected, has constipation, or seems uncomfortable after eating, tell their pediatrician or primary care clinician. They can help identify what needs evaluation and refer you to a feeding specialist, speech-language pathologist, occupational therapist, gastroenterologist, or dietitian as appropriate. Feeding, swallowing, and digestive concerns can have different causes and require different kinds of support.
Helpful resources:
A question to ask: “Is this a feeding skill, swallowing, nutritional, or digestive concern—and who should evaluate it?”
Hearing
If your child’s communication is delayed or they seem to respond inconsistently to sound, ask their pediatrician whether a pediatric audiology evaluation would help. Hearing can change over time, and passing a newborn hearing screen does not rule out a later concern.
Helpful resource: ASHA: Find an audiologist
Sleep, development, and behavior
Trouble sleeping, distress, changes in behavior, or difficulty with transitions can affect the whole family. They may also be ways a person communicates discomfort when they cannot easily explain what is wrong. Tell your child’s pediatrician about new or persistent changes. Depending on what they find, they may recommend a developmental-behavioral pediatrician, sleep specialist, psychologist, or another professional.
Helpful resource: American Academy of Pediatrics: What is a developmental-behavioral pediatrician?
A question to ask: “This is different from my child’s usual pattern. What possible sources of discomfort or sleep problems should we check?”
Making appointments more useful
You do not need to see every specialist on this page. Start with concerns that affect your child’s safety, comfort, communication, and participation in daily life. Your child’s primary clinician can help prioritize referrals and coordinate care.
For an appointment, consider bringing:
A brief description of your concern and when it began
Videos of episodes or movements, if safe and practical
Your child’s current medication list
The seizure action plan, if applicable
Relevant reports, including the genetic test result
Your two or three most important questions
If an evaluation does not explain something you continue to see, ask what the evaluation assessed, what it could not rule out, and whether someone with more specific experience should see your child.
The links on this page are starting points for families, not ReNU2 Foundation endorsements of individual clinicians. Medical and therapy decisions should be made with professionals who know the person’s history and needs.
This website provides general information and resources. It does not provide medical advice and is not intended to replace the care, diagnosis, or guidance of your child’s physicians and medical specialists. Always follow the advice of the clinicians who know your child and their medical history. If your child is experiencing a medical emergency, call 911 or your local emergency number immediately.