Sensorineural hearing loss (SNHL) occurs when sound can’t reach your inner ear. It can occur suddenly or gradually, and may be present at birth or develop later. While you might not be able to cure SNHL, hearing aids, cochlear implants or other devices can help you hear again.

People with SPATA5 and SPATA5L1 most often present with SNHL. Some present from birth, others not until later on. An Auditory Brainstem Response test is the best way to diagnose SNHL and can be done sedated for younger children and babies for best results.

Treatment

While SNHL is not curable, it can be treated with hearing aids or cochlear implants depending on the level of hearing loss.

You should see an Audiologist and Ear, Nose, and Throat Specialist to diagnose & treat SNHL. Speech/Language Pathologists and Auditory Verbal Therapists are also often a part of treatment.

If your child has a developmental delay, they haven’t gained the skills or reached the milestones that experts expect children their age to have. With early intervention services, your child may be able to catch up to their peers and reach their full potential.

Treatment

Depending on what the concerns are, your child’s healthcare provider may refer your child to one or more specialists. These may include:

• A hearing specialist.

• A speech therapist.

• A developmental pediatrician.

• A neurologist.

• A provider of early intervention services.

Cerebral Palsy (CP) is a group of conditions that affect movement and posture. It's formally known as a condition caused by damage that occurs to the developing brain, most often before birth. However, research is now indicated genetics can results in CP.

Making a SPATA5 or SPATA5L1 diagnosis does not “undiagnose” CP; instead, there can be value in dual diagnosis

Symptoms of cerebral palsy can vary greatly. In some people, cerebral palsy affects the whole body. In other people, symptoms might only affect one or two limbs or one side of the body. General symptoms include trouble with movement and coordination, speech and eating, development, and other issues.

• Hypotonia: muscle floppiness; often accompanied by difficulty in activating the muscles (weakness)

• Spasticity: consistent muscle tightness

• Dystonia: fluctuating muscle tightness and posturing

• Chorea: jumpy, jerky movements that often migrate from body part to body part

Treatment

A Physical Medicine and Rehabilitation Doctor is often the type of doctor that diagnosis and treats Cerebral Palsy.

• Physical, occupational, and speech therapy can help build core skills and identify workarounds for challenges

• Bracing and equipment can also be an important part of supporting your child

• Daily medication tailored to your specific child

• Injection therapies (botox and phenol injections)

• Surgical Treatments: Selective Dorsal Rhizotomy, Baclofen Pump, Deep Brain Stimulation

Epilepsy

• Repeated seizures

• The brain works by using electrical signals to communicate

• Seizures are caused by a ‘power surge’ in the brain

• Children with SPATA disorders are at a high risk for seizures

During a Seizure

• The brain’s normal rhythms are overactive (causes things to happen that shouldn’t) or disrupted (causes interruption of normal function)

• If rhythms are overactive, a child may stiffen, jerk, or make a sound

• If rhythms are interrupted, ‘freezing’, staring, or drooling may occur

• Most seizures are short and stop on their own, but each person’s seizures tend to have their own patterns

Different types of seizures

• Focal Seizures: Affect one area

  • Child may be aware or unaware

• Generalized Seizures: Affect both sides of the brain at once

• Absence Seizures: Brief staring spells

  • Important to recognize that not every state is a seizure

Epilepsy in SPATA Disorders

• Frequency

  • 40-70% of those with SPATA disorders have epilepsy

• Age of Onset

  • Typically infancy or early childhood

• Seizure Types

  • Generalized tonic-clonic, myoclonic, focal, epileptic spasms, infantile spasms, tonic

  • Some cases of Infantile Epileptic Encephalopathy

  • Some cases of Lennox-Gastaut

• EEG/MRI Findings

  • EEG: multifocal discharges, hypsarrhythmia-like in early onset cases, burst-suppression or multifocal spikes

  • MRI: hypomyelination, thin corpus callosum, cerebellar atrophy, PVL-like white matter loss

• Notes

  • Often drug-resistant, seizures may lessen with age

  • Epilepsy co-occurs with spastic-dystonic CP-like motor phenotypes

  • Many meet criteria for “Development and Epileptic Encephalopathy”

Diagnosing Epilepsy

• Doctors will ask about your child’s birth, development, and medical history

• Additional questions about seizure features, patterns and changes over time will likely be asked as well

• An EEG will typically be performed to record brain waves during rest and sleep

• An MRI will usually be done to look for changes in brain structure

• Epilepsy is a clinical diagnosis with many factors at play

Treatment Goals

• No seizures (or as few as possible)

• No side effects (or the closest we can get)

• We want to minimize seizure-related disruptions or injuries

Treatments

Many SPATA cases are considered drug-resistant and hard to control. It may take a combination of medications to get desired results. A Neurologist and/or Epileptologist will diagnose, monitor, and treat epilepsy.

Diet Treatment: The ketogenic diet or Modified Atkins Diet may be effective for some children with seizures

Epilepsy Surgery: Epilepsy surgery, rather than being a treatment of last resort, can be highly effective for the right candidates. Surgery can greatly improve seizure control and sometimes even development.T ypically considered after 2+ medications have failed to control seizures. Works by removing or disconnecting the source of the seizures. Most of the time, focuses on a specific part of the brain that is misbehaving. However, most SPATA5 and SPATA5L1 patients have widespread abnormalities on brain MRI rather than focal ones

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Neuromodulation Devices:

• VNS (Vagus Nerve Stimulator): Sends small pulses from the Vagus Nerve up to the brain to reduce seizures

• RNS (Responsive Neurostimulator): Zaps developing seizures as they start to occur

• DBS (Deep Brain Stimulator): Provides regular pulses within the brain to keep seizures from organizing

• These treatments can be valuable approaches; best decided on at an epilepsy center that offers all options

Pediatric feeding disorders (PFDs) are complex, multifactorial conditions that interfere with a child’s ability to eat or drink safely and effectively, potentially compromising growth, development, and psychosocial functioning.

Many SPATA5 and SPATA5L1 children have feeding tubes, others do not! This will be dependent on each individual child.

What is CVI?

• Brain-based visual impairment - the eyes see, but the brain struggles to interpret

• Vision may fluctuate depending on fatigue, environment, and medical states

• CVI is now the leading cause of visual impairment in children in the US

• CVI is about visual processing, not eye health.

How Common is CVI?

• CVI affects 30-40% of all children with visual impairments

• About 1 in 30 school-aged children may show CVI-related visual challenges

• Over 180,000 children in the US are estimated to have CVI, though most remain undiagnosed

Common Visual Behaviors

• Visual access fluctuates — unpredictability

• Processing visual info takes extra time

• Easily affected by visual clutter, crowding, and competing sensory input

• 2D could be harder than 3D

• Attracted to light and motion

• Distorted or absent eye movements, nystagmus or tactile stimulation

• Visual fields might be fragmented

• Difficulty with looking at faces, eye-to-eye contact

• Difficulty with recognizing people or types of objects

• Plays with toys without looking

• Reaches while looking away

Websites:

• CVI Scotland

• CVI Now – Perkins

• Paths to Literacy

• Teach CVI

Microcephaly (my-kroh-SEF-uh-lee) is a rare neurological condition in which an infant's head is much smaller than the heads of other children of the same age and sex. Sometimes detected at birth, microcephaly often occurs when there is a problem with brain development in the womb or when the brain stops growing after birth.

Neurostorming is a hyperactive response of the sympathetic nervous system – the division of the nervous system controlling response to environmental changes and stress.

The sympathetic nervous system triggers the ‘fight-or-flight’ response, so damage to the brain can leave this response ‘on’ for days, weeks, and even months. In this type of response, blood pressure is elevated, adrenaline production is increased, and the body requires more energy to operate.

Essentially, patients experiencing neurostorming are in an intense, elevated reaction to their environment without an external threat to them. They are unaware of their response and are unable to turn it off.

Many children are on central nervous system medications to help with these episodes.

Intellectual disability is a condition that limits intelligence and disrupts abilities necessary for living independently. Signs of this lifelong condition appear during childhood. Most people with this will need some degree of assistance throughout their lives. Support programs and educational offerings can help with managing symptoms and effects.