4 Developmental Disorders 3.pdf

Developmental Disorders (Part 3) PT 546 Fall 2024 Dr. Brennan Cerebral Palsy It is NOT a disease, but a category of developmental disabilities with an early onset Non-progressive CNS (brain) deficit Single site of damage or multifocal Results in...

Developmental Disorders (Part 3) PT 546 Fall 2024 Dr. Brennan Cerebral Palsy It is NOT a disease, but a category of developmental disabilities with an early onset Non-progressive CNS (brain) deficit Single site of damage or multifocal Results in motor impairments and sensory abnormalities Cerebral Palsy Cerebral palsy (CP) is the most common motor disability in childhood. Recent population-based studies from around the world report prevalence estimates of CP ranging from 1 to nearly 4 per 1,000 children. The prevalence of CP is higher for children born preterm or at low birthweight Causes of CP No one cause Need to look at the individual case Congenital Acquired Genetic Congenital Intrauterine or at the time of labor and delivery Prenatal: Maternal infection or illness Anoxic event Hyperbilirubinemia Rh Compatibility Metabolic disorders Errors in development of the brain Congenital Perinatal Causes Premature birth Gestational age rather than size is greatest predictor of future outcome Compression of brain or rupture of blood vessels during prolonged or difficult deliveries Asphyxia-drug induced, premature separation of placenta, mechanical obstruction Acquired 10-20% of CP cases are acquired Results from brain damage in first few months to years of life Caused by Brain infection (bacterial meningitis, viral encephalitis) TBI (MVA, fall, child abuse) Seizures, tumors, near drowning Intracranial hemorrhage, vascular accidents Genetic Clinical Picture – ICF Body Structure and Function Primary Impairments Muscle tone and spasticity Reduced postural control Reduced selective voluntary motor control Impaired sensory processing Secondary impairments Muscle hypo-extensibility Joint contracture Skeletal malalignment Impaired force production Decreased strength Impaired endurance Clinical Picture – ICF Activity Limitations Delayed GM skills Mobility limitations such as inability to creep or walk Characteristic gait patterns (ex: crouch gait) Participation Restrictions Family life and community life affected Children with CP participate in fewer social and physical activities Need to identify life roles of the child and types of things the child would like to participate in Muscle Tone: Type Spastic Due to damage of motor cortex Dyskinetic (dystonic or athetoid) CP Due to damage of basal ganglia Ataxia Due to damage of the cerebellum Hypotonic Due to damage to cerebellum Muscle Tone: Distribution Monoplegia Diplegia Hemiplegia Quadriplegia/Tetraplegia Degree of Muscle Tone Mild Moderate Severe Classification Scales: GMFCS Based on self-initiated movement with emphasis on sitting, transfers, and mobility 5 level classification system based on functional limitations, need for handheld mobility devices or wheeled mobility, and to a lesser extent, quality of movement Emphasis on USUAL performance in home, school, and community settings Classification Scales: GMFCS General headings for each level o Level 1: walks without limitations o Level 2: walks with limitations o Level 3: walks using a handheld mobility device o Level 4: self-mobility with limitations; may use powered mobility o Level 5: transported in manual wheelchair Diagnosis of CP MRI, General Movement Assessment (GMA), and Hammersmith Infant Neurological Examination (HINE) has best predictive validity for diagnosing CP before 5 months corrected age MRI, HINE, and developmental assessment has best predictive validity of diagnosing CP after 6 months of age Examination of history Rule out other disorders which can cause motor problems Establish non-progressive nature Referral Recommendations Referral recommended if child demonstrates one or more of the following: o Hand preference before 12 months of age o Stiffness or tightness in legs at 6-12 months o Keeps hands fisted after 4 months of age o Persistent head lag after 4 months of age o Not able to sit without support by 9 months of age o Consistent asymmetry of posture and movements after 4months of age Prognosis CP is a non-progressive disorder. The lesions within the brain are not increasing in size or severity of damage to surrounding tissue, however, the child may appear as though the condition is worsening as they grow and develop Why?? Prognosis for Ambulation Independent sitting by 24 months remains the best predictor of ambulation for 15 meters with or without AD by age of 8 years old If independent sitting is not achieved by 3 years old, little chance of ambulation Other prognostic indicators o Head control by 9 months of age o Rolling supine to prone by 18 months o Sitting without arms support by 24 months* o Reciprocal crawling by 30 months **All indicate a critical period in first 30 months for determining future potential for independent walking https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035308/ Medical Management Managing spasticity allows windows of opportunity to work more intensely on muscle flexibility, strength, coordination, and function Botox injections Oral medications: baclofen, diazepam, and dantrolene Intrathecal baclofen Selective dorsal rhizotomy Orthopedic management Muscle or tendon releases Tendon transfers Osteotomies Single event multi-level surgery (SEMLS) Fetal Alcohol Syndrome (FAS) Constellation of abnormalities directly related to alcohol ingestion during pregnancy Pathophysiology: Direct effect of alcohol on developing organs Genetic predisposition or poor nutrition may be contributing factors May damage fetus anytime during pregnancy Currently no established amount of alcohol which pregnant women can safely consume Fetal Alcohol Syndrome (FAS) Incidence: 3-6: 1,000 live births 50-75% of infants of chronic alcoholics have FAS Fetal Alcohol Syndrome (FAS) Clinical picture pre and post natal growth deficiency facial dysmorphology microcephaly, small wide set eyes, thin upper lip shortened upturned nose, receding chin (micrognathia) drooping eyelids, cleft palate, small mouth, wide space between nose and upper lip (philtrum) muscle changes, visual disturbances, congenital heart disease, behavior problems FAS Facial Characteristics www.fetalalcohol.com FAS www.fetalalcohol.com FAS www.fetalalcohol.com aafp.org  FAS- Diagnostic criteria To receive a diagnosis from a physician, 3 criteria must be present: 1) Characteristic facial features 2) Growth retardation 3) Central Nervous System neurodevelopmental abnormalities FAS- Diagnostic criteria To receive a diagnosis, 3 criteria must be present: 1) Characteristic facial features include: a flattened midface thin upper lip indistinct/absent philtrum short eye slits FAS- Diagnostic criteria To receive a diagnosis, 3 criteria must be present: 2) Growth retardation: lower birth weight disproportional weight not due to nutrition height and/or weight below the 5th percentile FAS- Diagnostic criteria To receive a diagnosis, 3 criteria must be present: 3) Central Nervous System neurodevelopmental abnormalities: Impaired fine motor skills Learning disabilities Behavior disorders or a mental handicap (the latter of which is found in approximately 50% of those with FAS) Reye’s Syndrome Pathophysiology-true cause unknown Tends to follow some acute viral infection (influenza, Epstein- Barr, varicella) May be associated with aspirin use (increased salicilates in blood) Related causes may include exogenous toxins or intrinsic metabolic defects Acute encephalopathy and fatty degeneration of the viscera surrounding brain (acute toxic encephalopathy) Reye’s Syndrome Incidence related to viral infection rates 2-18 y.o. population most common Clinical picture-fever, rhinorrhea, sore throat, cough, abdominal pain, diarrhea, rash Onset of encephalitis-mild amnesia->lethargy-> disoriented/agitated->coma and unresponsiveness-> decorticate or decerebrate posturing (see next slide) seizures, flaccidity, fixed dilated pupils, respiratory arrest https://sites.google.com/site/neuro82010/decorticate-and-decrebrate-rigidity Reye’s Syndrome Diagnosis: significant increases in sera ammonia levels Presentation usually follows acute viral infection Medical management Peritoneal dialysis, blood transfusion, restoration of blood levels, IV electrolytes, endotrachial tube and controlled ventilation, meds to overcome urea cycle deficiency and intracranial pressure May see permanent neurological damage if treatment is delayed Rett Syndrome Pathophysiology-unknown, possible x-linked dominant condition, lethal to males Incidence: 1:12,000-15,000 live female births Clinical picture-period of normal development to 6 months with deterioration between 6-18 months Rett Syndrome Normal head size at birth with decreased rate of growth, loss of acquired behavioral/social/psychomotor skills severe/profound ID, loss of language skills Loss of purposeful hand skills, replaced by stereotypic hand wringing, clapping, waving, or mouthing Scoliosis, vasomotor disturbances, seizures, breathing dysfunction, teeth grinding, growth retardation Rett Syndrome Rett Syndrome Diagnosis-via clinical presentation often misdiagnosed Medical management Seizure medications