Stanbridge - T4 - Peds - W7 - Other Pediatric Conditions

• PowerPoint #7 discusses various pediatric conditions and interventions.
• This includes congenital disorders, arthrogryposis multiplex congenita (AMC), Down syndrome (DS), spina bifida, autism spectrum disorders (ASD), congenital muscular torticollis (CMT), Osteogenesis Imperfecta (OI), and Muscular Dystrophy.

Arthrogryposis Multiplex Congenita (AMC)

• AMC is a non-progressive syndrome involving multiple congenital joint contractures with a symmetric pattern in all four limbs.
• The pathology is a motor syndrome of unknown origin, often occurring in the first trimester of fetal development.
• Lack of fetal movement during pregnancy is a characteristic.
• Potential causes include maternal fevers, infections, vascular compromise, limited uterine space/low amniotic fluid, muscle atrophy, small uterus, CNS/spinal cord deformities, and atypical development of tendons, bones, joints, or joint linings.
• In 1/3 of AMC cases, there is a genetic cause on chromosome 5, or distal AMC traced to chromosome 9.
• Clinical Signs of AMC include multiple joint involvement with contractures, deformities present at birth, muscle atrophy with decreased strength, possible absences of muscle groups, lack of normal skin creases, and diminished tendon reflexes.
• Common joint involvements include hands, wrists, elbows, ankles, knees, and hips.
• Medical intervention includes transdisciplinary team approach with orthopedic surgeon, PT, OT, family and child.
• It also includes orthopedic surgeries timed according to development.
• An example: club foot deformity with the heel pointing downward and the forefoot turning inward should have surgery prior to standing/ambulating, done between 6 and 12 months.
• Common hip dislocation, if bilateral, usually does not have surgery due to level pelvis; if only one dislocates, surgery is considered to balance out the pelvis and prevent scoliosis.
• PT assessment involves goniometry for A/PROM of limbs/trunk, strength, protective extension, equilibrium reactions, gross motor skills, transitions, mobility, and ADL's.
• PT Interventions include addressing limitations in ROM and decreased muscle strength, using intensive stretching/strengthening, and age-appropriate intervention.
• HEP is integrated into the family and child's routine.
• Functional independence in upper extremities is a priority, particularly elbow flexion/extension for independence in ADL’s.
• Infants require serial casting, splinting, and family/caregiver education on holding, feeding, and sleeping positions.
• Toddlers need strengthening and stretching incorporated into play schemes, with a focus on ambulation, mobility, pulling to stand, and object manipulation (ball skills).
• Self-feeding and beginning dressing should also be incorporated.
• Pre-school and school-age goals should be modified to reflect age-appropriate skills and these children are typically fully included in the regular education system, with adaptive PE and therapies outlined in IEP.

Down Syndrome (DS)

• DS is named after John Langson Down in 1866.
• The genetic error was isolated in 1959 by Lejeune that demonstrated an atypical chromosome count.
• Pathology involves three types of chromosomal abnormalities, where Trisomy 21 is the most common (~95%, more frequently seen in males), Translocation (5%, more often in females), and Mosaicism (1%, some cells have it and some don't).
• Incidence is approximately 1 in 700 live births in 2010.
• The risk of Down syndrome increases with maternal age and advancing paternal age plays a role as well.
• Clinical signs and physical features include Hypotonia, short stature, a flat facial profile, protruding tongue, epicanthal folds, upward slanting eyes, small ears, single transverse palmar crease, cognitive deficits, speech & motor delays, and joint hypermobility.
• There are additional or secondary concerns, such as - congenital heart defects, increased risk for leukemia (in younger children), atlantoaxial instability (excessive mobility between C1-C2), risk for respiratory infections and others.
• Atlantoaxial instability (excessive mobility between C1-C2) might cause upper motor neuron lesion.
• Signs of the motor neuron lesions include clumsiness, incontinence, sensory changes, easy fatigability, and decreased neck mobility with possible torticollis.
• Medical intervention includes addressing cardiac valve defects, endocardial cushion defects (holes in their heart); they may require surgical intervention.
• Other interventions include interventions for nutrition burning 15% fewer calories than peers, monitoring for orthopedic co-morbidities, and early intervention programs to address cognitive, fine motor and gross motor delays, and social skills.
• PT Interventions: Focus on assisting the child to become functional/independent.
• Early intervention focuses on developmental and coordination skills, stability at proximal joints, co-contraction, promoting early development of motor skills, pre-ambulation, standing balance, developmental sequence activities, and engaging/supporting the family.
• PT also includes caregiver/parent education on handling, carrying & positioning, balance reactions in sitting and standing, and gait activities (potentially needing orthotics).
• The SureStep flexible SMO (supramalleolar orthotic) works with children who have low tone.

Spina Bifida

• Spina Bifida literally means "cleft spine," involving incomplete closure of the spinal column.
• It is a neural tube defect that can be detected at four months of gestation via imaging, diagnostics & lab tests (alpha-fetoprotein AFP), or amniocentesis.
• Elevated AFP in amniocentesis indicates potential spina bifida.
• Levels of spina bifida include Occulta, Meningocele (cystica), and Myelomeningocele.
• Spina Bifida Occulta: the neural arches do not connect, however there is no neural material located outside of spinal canal.
  • It's the most common type, typically involving the lower lumbar spine, and is usually benign.
• Spina Bifida Cystica Meningocele occurs when the meninges protrude thru the opening of the spinal column (3 protective membranes covering the brain and spinal cord) in a cyst covered with epithelium.
  • The spinal cord is not trapped and the child may experience no symptoms, while some experience bowel and bladder dysfunction.
• Spina Bifida-Myelomeningocele is when both the spinal cord and meninges protrude through the vertebral defect into a sac (cyst) or open area in back and there is cerebral spinal fluid and possibly nerve roots.
  • Spinal cord may be visible and exposed, is a high risk factor for infection, malformed or incomplete, and the skin at the lesion would rarely be itact.
  • The condition typically occurs in lumbosacral area and involves flaccid LE’s with loss of sensation below level of myelomeningocele.
• Clinical Signs of Myelomeningocele include flaccid paralysis in LE's, muscle weakness/wasting, atypical deep tendon reflexes.
• It also includes loss of sensation below level of myelomeningocele, possible incontinence and 80% have hydrocephalus.
• Conditions Resulting from Myelomeningocele include abnormalities of the brain: Arnold-Chiari malformation (type 2) which is the malformation in the base of the brain (cerebellum, pons and medulla) where it is elongated and protrudes into the foramen magnum.
• Hydrocephalus affects 80% of children, which is Is the enlargement of the brain due to an increase in cerebrospinal fluid in the ventricles.
  • hydrocephalus can be corrected with surgery, where a narrow surgical tube is inserted into the ventricle and threaded under the skin behind the ear by draining CSF from the brain and into the gut.
• Bowel and bladder dysfunction can result from Meningocele and Myelomeningocele.
• For example, Incontinence managed by catheterization and there is a latex allergy present in up to 73% of patients.
• It could also result in difficulties with social as well as emotional development, osteoprosis, and/or can also result in Tethered cord syndrome.
  • This occurs when spinal cord is fixed caudally because of pathology or from from an earlier surgical repair, or from an earlier surgical repair.
  • In this spinal cord becomes stretched , distorted , and ischemic, and may show atypical neurological signs such as spasticity in L/E.
• A related (to spina bifida) form of Occult Spinal Dysraphism (OSD) is typically seen in spina bifida occulta.
• OSD, which is a condition in which there is a noticeable abnormality in the child's lower back, which would be displayed by with the child is a birthmark, tufts of hair, small opening in skin, or a small lump/sacral dimple. Interventions for Spina Bifida include shunt care for hydrocephalus and proper skin care to prevent skin breakdown.
• Families should be allied with the medical team, get a support group, and wear the child should wear orthotics,
• Other modes of interventions use the following with- wheeled mobility and PT/OT.
• PT should assist the child with physical therapy, and to help improve their their functional abilities. The interevention include, which will depend on the child's lesion level, functional abilities and age and help focus bed mobility, transfers, and recreational activities.

Autism and Autism Spectrum Disorders (ASD)

• Children often have one or more of the following disorders: ADD or ADHD, Anxiety disorder, Deafness, Depression, OCD, Tourette syndrome, as well as mental retardation/seizures .
• Early diagnosis and treatment can substantially improved outcomes.
• The Screening and Evaluation Tools involve using The Ages (and Stages) Questionnaire- 2nd Edition (ASQ), but can also include various other tests such as Childhood Autism Rating Scale(CARS).
• Intervention for it involves communication, working on their ABA program, helping them to improve Social Skills by helping them woth Sensory, Fine motor and ADL's.

Congenital Muscular Torticollis (CMT)

• CMT causes involuntary neck contraction to one side due to contraction of the sternocleidomastoid muscle.
• The head presents laterally flexed with the chin facing the opposite direction, and the word "torticollis" means twisted neck.
• It is typically not evident at birth but diagnosed at 2-3 months old.
• Potential causes including breech position, malposition in uterus (overcrowding or multiple babies), birth trauma to soft tissues, and hypotonia (low muscle tone).
• There an enlarged mass that may or may not be non-tender .
• There is also decreased cervical ROM that is head has laterally tilted to left side with chin rotated toward right shoulder(or other side)
• The infant could also avoid rolling to that direction, can also have a position in that way.
• Associated Clinical Signs include positional plagiocephaly, which is when there is asymmetrical distortion of the skull and could affect the head.

OSTEOGENSIS Imperfactia

• The etiology would be from genetic inherantance as the bones are are very easy to fracture.
• There will be bowinf in the bones, scolious, kyphosis, and a bluish tint that is commonly displayed.
• Treatmeant for the diseases involves aquatic, use of mobility and strengthening.

Muscular Dystrophy

• Defects are in Muscle protein ,and the death of muscle cell is more likely within people with this condition.
• This will lead to limited ROM/Joint Contractures, and there is generally, impaired respiratory function with this case.
• False Muscle with this case,

Idiopathic Toe Walking

• According to the the Mayo Cinic is when" "walking with the foot on the toe", there may be altered Propiocetive processing, vestibular processing , and tactile
• May increase risk of falling.
• In these situation there would be shortening , of achillies tendon..
• Medical management requires, the patient to engage in stretching and with orthotics so that the person has assistance with balance .

Pediactric Injuries

• In pediatric these injures occur when at a youth period , especially to athletes .
• These injures occur around joint around youth and these these areas are weak , which means it becomes very easy to fracture, and the areas is where there is vertebral joints.
• The injuries could apophyseal fractures, where there is a injury in the growth cartilag.
• It is recommend that the patient to rest.
• Type 1 is the ,through growth plate, through the growth
• It i simprotant to let the bone heal.

In the Neonatal Unit

• Care for the neonate needs specialized skills and knowledge.
• The physical therpist must take great care since these patients are fragile.
• The team would have to have to have to come to a"clustered" effect so the child can function at their fullest .
• It is imporatnt in a new natal infant for them to be assessed since since it provides the assessment tool.