Neurological Disorder Part 3 - Pediatric Disorders CDKL5 Disorder • Characteristics: • Rare x-linked genetic disorder • CDLK5 mutations cause deficiencies in the protein needed for normal brain development • More common in females; however males with the disorder are affected much more severely than females © Trusted Neurodiagnostics Academy CDKL5 Disorder • Characteristics • CDKL5D mutations can be found in children who have been diagnosed with infantile spasms, Lennox Gastaut syndrome, Rett Syndrome, West Syndrome and autism © Trusted Neurodiagnostics Academy CDKL5 Disorder • Symptoms: • Infantile spasms beginning the first 3 - 6 months of life • Neurodevelopmental impairment • Patients cannot walk, talk, or feed themselves • Repetitive hand movements (stereotypies) © Trusted Neurodiagnostics Academy CDKL5 Disorder • Seizures: • Early onset • Infantile spasms, myoclonic, tonic, tonic-clonic seizures • Status epilepticus and non convulsive status epilepticus can occur © Trusted Neurodiagnostics Academy CDKL5 Disorder • Diagnosis: • Genetic blood testing to confirm the change or mutation on the CDKL5 gene • EEG © Trusted Neurodiagnostics Academy CDKL5 Disorder • EEG Findings: • Early in the disorder • EEG may be normal or slightly abnormal • During progression of the disorder • Some background activity is slow and epileptic discharges can be seen in one or more areas • Burst Suppression • Atypical hypsarrhythmia © Trusted Neurodiagnostics Academy CDKL5 Disorder © Trusted Neurodiagnostics Academy CDKL5 Disorder • Treatment: • Seizures are very difficult to treat • Some patients are treated with monotherapy or adjective therapy • Steroid treatments • Ketogenic diets • Vagus nerve stimulation • Surgery © Trusted Neurodiagnostics Academy Ohtahara Syndrome Early Infantile Epileptic Encephalopathy • Characteristics: • Rare epilepsy syndrome seen in neonates and infants • First seizure can be felt in the mother’s womb in the last trimester or seen within the first 10 days of life • Equally affects males and females © Trusted Neurodiagnostics Academy Ohtahara Syndrome (OS) Early Infantile Epileptic Encephalopathy • Characteristics: • No known cause • It is common for patients suffering from OS to have part or all of the cerebral hemispheres not fully developed and changes in their brainstem © Trusted Neurodiagnostics Academy Ohtahara Syndrome (OS) Early Infantile Epileptic Encephalopathy • Symptoms: • First seizure can be felt in the mother’s womb in the last trimester or seen within the first 10 days of life • Motor and cognitive problems deteriorate with age © Trusted Neurodiagnostics Academy Ohtahara Syndrome (OS) Early Infantile Epileptic Encephalopathy • Seizures: • Tonic seizures are the most common and occur singly or in clusters • Partial or focal seizures • Atonic • Myoclonic • Generalized tonic-clonic seizures • Infantile spasms © Trusted Neurodiagnostics Academy Ohtahara Syndrome (OS) Early Infantile Epileptic Encephalopathy • Diagnosis: • Physical exam • EEG • MRI of the brain to look for structural changes • Blood work © Trusted Neurodiagnostics Academy Ohtahara Syndrome (OS) Early Infantile Epileptic Encephalopathy • EEG Findings: • Burst suppression when awake or asleep © Trusted Neurodiagnostics Academy Ohtahara Syndrome (OS) Early Infantile Epileptic Encephalopathy • Treatment: • Valproate • Anti-seizure medication • Felbatol (felbamate) • Onfi (clobazam) • ACTH or prednisone • Klonopin (clonazepam) • Surgery • Sabril (vigabatrin) • Focal resection • Topamax (topiramate) • Hemispherectomy • Zonegran (zonisamide) • Ketogenic diet • Phenobaribital • Vagus nerve stimulator © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy • Characteristics: • Children with SCN8A gene mutation can present with • Early Infantile Epileptic Encephalopathy - 13 (EIEE13) (AKA Ohtahara syndrome) • Benign Familial Infantile Seizures - 5 (BFIS5) • Paroxysmal Dsykinesia © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy • Symptoms: • Seizures multiple times a day • Muscle spasms • Abnormal movements • Low or high muscle tone • Ataxia • Developmental and cognitive disabilities © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy • Seizures: • Generalized tonic-clonic • Tonic • Myoclonic • Atypical absence • Infantile spasms © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy • Diagnosis: • Physical exam • EEG • Genetic testing • EKG • MRI © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy • EEG Findings: • May be normal at the onset of epilepsy but often comprises moderate to severe background slowing with focal or multifocal epileptiform discharges after onset © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy © Trusted Neurodiagnostics Academy SCN8A-Related Epilepsy • Treatments: • Anti-seizure medication • Lamictal (lamotrigine) • Depakote (valproate) • Banzel (rufinamide) Ketogenic diet • Tegretol (carbamazepin) • Steroids • Tripeptal (oxcarbazepine) • • Immunoglobulins • Dilantin (phenytoin) • Cannabinoids • Vimpat (lacosamide) • Vagus nerve stimulation © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome • Characteristics: • Rare neurological condition that is present at birth • Is not hereditary • Mutation of the GNAQ gene • Port-wine birthmark on the child’s face © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome • Symptoms: • Abnormal brain functioning • Seizures • Hemiparesis • Varying degree of developmental delay • Glaucoma © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome • Seizures: • Focal seizures • Focal to bilateral tonic-clonic seizures • Epileptic spasms • Status epilepticus © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome • Diagnosis: • Physical exam • CT • MRI • EEG • Complete ophthalmologic exam © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome • EEG Findings: • Background may be normal or may show focal slowing over the region of the leptomeningeal angioma • In generalized seizure types the background may show widespread slowing or hypsarrhythmia • Focal rhythmic epileptiform discharges © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome © Trusted Neurodiagnostics Academy Sturge-Weber Syndrome • Treatment: • Anti-seizure medications • Vagus nerve stimulation • Surgery • Hemispherectomy • Focal resection © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy • Characteristics: • Frequent intractable seizures within the first 2 months of life (over half have a seizure onset by 10 days) • First seizure can be felt in the mother’s womb • Severe early encephalopathy • Microcephaly may develop overtime • Reduced life expectancy © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy • Symptoms: • Many seizure types may occur • Myoclonic seizures • Very frequent • Brief • Single • Repetitive • Erratic • Nearly continuous body jerks © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy • Seizures: • Myoclonic • Focal motor • Tonic • Tonic spasms - rarely © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy • Diagnosis: • EEG • MRI • Blood work © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy • EEG Findings: • Background EEG is abnormal in all states with burst suppression pattern • EEG may evolve to hypsarrhythmia pattern in children who evolve to have West Syndrome © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy © Trusted Neurodiagnostics Academy Early Myoclonic Encephalopathy • Treatment: • Anti-seizure medications: • Onfi (clobazam) • Vagus nerve stimulator • Klonopin (clonazepam) • Ketogenic diet • Topamax (topiramate) • Surgery • Zonegran (zonisamide) Focal resection • Phenobarbital • • Valpoate • Hemispherectomy • Felbatol (felbamate) © Trusted Neurodiagnostics Academy Rett Syndrome • Characteristics: • Progressive neurodevelopment disorder • Almost exclusively affects females • Infants with Rett syndrome develop normally for 7-18 months until they begin to have developmental regression • Mutations of MECP2 gene suspected to be the cause • More than 200 different mutations in the MECP2 gene © Trusted Neurodiagnostics Academy Rett Syndrome • Symptoms: • The symptoms, progression, and severity can greatly vary from one child to another • Classic Rett Syndrome • Variant Rett syndrome • Additional MECP2 - Related Disorders © Trusted Neurodiagnostics Academy Rett Syndrome Loss of eye contact, irritability Classic Rett Syndrome: • • and restlessness Infants are often placid and • Between 1-4 years of age have poor sucking ability • patients begin to lose previously acquired skills as Hypotonia is common • well as a decline in intellectual before 6 months of age function • Microcephaly can occur • Patients will lose the ability to make purposeful hand and • Between 6-18 months of age patients are finger movements but will developmentally stagnant develop stereotypic hand movements(wringing/clapping) © Trusted Neurodiagnostics Academy Rett Syndrome • Classic Rett Syndrome: • Autistic-like features • Seizures are common • Panic attacks • Gait ataxia • Bruxism • Breathing difficulties leading to aerophagia • Tremors • Apraxia © Trusted Neurodiagnostics Academy Rett Syndrome • Classic Rett Syndrome: • Some patients with Rett Following rapid Syndrome may lose their • ability to walk deterioration, neurological features Growth failure and muscle stabilize • wasting that worsens with age • Some patients show an overall • Bowel dysmotility improvement with behavior and social • Functional megacolon interactions © Trusted Neurodiagnostics Academy Rett Syndrome • Classic Rett Syndrome: