Developmental Conditions (Cerebral Palsy, Muscular Dystrophy, & Sickle Cell Anemia)

What developmental condition is this describing:

• non-progressive permanent condition

• impacts males more than females

• prenatal or perinatal origin

• may result in contractures 2/2 spasticity

• may use primitive grasp pattern/retained primitive reflexes

• prevalence highest in non-Hispanic black children

• atypical posture and balance deficits common

• oral motor concerns may result in feeding and communication issues

• ID is NOT always co-occurring

cerebral palsy

What are the causes of cerebral palsy?

abnormal brain development or damage to the developing brain that affects a person’s ability to control their muscles; damage to white matter in the brain; interruption of brain growth caused by gene changes; bleeding in the brain; lack of oxygen

What is the incidence of cerebral palsy?

most common motor disability in childhood; impacts 2.4/1000 children in the U.S.

What are the risk factors for cerebral palsy?

low brithweight, premature birth, use of ART, multiple births, infections (chicken pox, rubella, CMV), jaundice, medical conditions of the mother, and birthing complications

What are the signs and symptoms of cerebral palsy?

tone abnormalities (hypertonicity, hypotonicity, dystonia), reflex abnormalities (absence of primitive reflexes, delayed righting and equilibrium reactions, overflow, enhanced stretch reflex), atypical posture (caused by primitive reflexes, muscle tone, and movement)

What are the main types of cerebral palsy?

spastic* (diplegia, hemiplegia, quadriplegia), dyskinetic (athetoid, choreoathetoid, dystonic), ataxic, and mixed

*most common

spastic diplegia

type of cerebral palsy that mainly impacts the lower extremities; tight hips and scissoring common; arms may be minimally impacted

spastic hemiplegia

type of cerebral palsy that impacts one side of the body; arm typically more affected than leg

spastic quadriplegia

most severe form of spastic cerebral palsy; impacts all limbs, trunk, and face; comorbid intellectual disability, seizures, and issues with vision/speech/hearing common

athetoid cerebral palsy

type of dyskinetic cerebral palsy characterized by slow and uncontrollable writhing or jerky movements of the hands, feet, arms, or legs; facial movements also impacted resulting in grimacing and drooling; difficulty sitting, walking, eating, and communicating

choreoathetoid cerebral palsy

type of dyskinetic cerebral palsy that impacts balance and depth perception; characterized by poor coordination, wide-set gait, and difficulty with control of fine and precise movement

dystonic cerebral palsy

type of dyskinetic cerebral palsy characterized by hypertonia and stiff postures, slower movement, and difficulty with stretching; tactile stimulation or movement of another body part may trigger increased tone

ataxic cerebral palsy

type of cerebral palsy characterized by issues with balance and coordination and difficulty executing rapid or controlled movements

mixed cerebral palsy

type of cerebral palsy where characteristics of more than one subtype are present; most common form is spastic-dyskinetic

How is cerebral palsy managed therapeutically?

serial casting of limbs, constraint-induced movement therapy (CIMT), thoracolumbosacral orthosis (TLSO), ankle-foot orthosis (AFO), sensomotoric orthosis (SMO)

How is cerebral palsy managed medically?

diazepam, botox (injections, intrathecal baclofen pumps), selective dorsal rhizotomies, tendon/muscle transfers, tendon lengthening, fusions

Which motor function assessments are relevant to cerebral palsy?

Prechtl’s General Movements Assessments (GMs), Test of Infant Motor Performance (TIMP), Development Assessment of Youth and Children (DAY-C), Alberta Infant Motor Scale (AIMS), Nueor Sensory Motor Development Assessment (NSMDA), Standardized Motor Assessment (MA)

Which developmental condition is this describing:

• hereditary disease that causes weakness and degeneration of skeletal muscles

• over 30 different subtypes

• progressive

• variable lifespan

• symptoms not always present at birth

• decreased muscle strength, cramping, and decreased gross motor skills present in all types

• lack of structural protein dystrophin (glue)

muscular dystrophy

What are the causes of muscular dystrophy?

lack or absence of structural protein dystrophin (“glue” that holds muscles together); can be passed down through autosomal dominant, X-linked recessive, or autosomal recessive inheritance

Duchenne muscular dystrophy

• Inheritance: X-linked (mother passes affected genes onto son); genetically present at birth, although symptoms may not appear until 3-4 years old

• Gender: affects only males

• Dystrophin levels: absent or deficient

• Cognition: 20-30% of patients experience cognitive complications

• Muscles and movement: proximal-distal weakness; weakness always bilateral/symmetrical; “valley sign” (Pradham sign) frequently present; most require wheelchair by age 12; contractures and severe spinal deformities; affects cardiac and pulmonary muscles

Becker muscular dystrophy (BMD)

• Inheritance: X-linked (mother-to-son); onset of symptoms vary from 5 to 60 years, but most often occurs between ages 6 and 18

• Gender: affects primarily males

• Dystrophin levels: less than normal

• Cognition: 7% to 25% experience intellectual disability or cognitive challenges, but typically milder than DMD

• Muscles and movement: usually symmetric starting in muscles of the pelvic girdle and thighs, then to trunk and upper extremities; lumbar lordosis; facial muscles unaffected; some men become wheelchair dependent in their 30s; often display delayed ambulation, “toe walking”; muscle wasting / weakness progresses proximal to distal, slower rate than DMD; cardiac involvement similar to DMD

limb-girdle muscular dystrophy (LGMD)

• Inheritance: autosomal recessive (both parents carry and pass on affected gene), rare; 10% autosomal dominant; autosomal recessive forms display more severe symptoms with faster decline and loss of function

• Gender: equally affects males and females

• Dystrophin levels: normal; FKRP enzyme does not function at full capacity, leading to instability and injury of muscle cells

• Cognition: no associated cognitive deficits

• Muscles and movement: first affects muscles of the pelvis and shoulder girdles; progression of muscle weakness not always symmetrical; “waddling” gait; usually slow muscle wasting; positive Gower sign (use of hands to “climb up” legs to stand from floor)

myotonic muscular dystrophy (MMD)

• Inheritance: autosomal dominant; teen or adult onset; 50% live beyond affected live beyond 50 years of age

• Gender: affecting both males and females

• Dystrophin levels: normal; abnormal encoding of proteins on 2 different genes

• Cognition: cognitive impairments may be present

  • Muscles and movement: progression of muscle weakness is slow; weakness/wasting begins in the face, lower legs, forearms, hands, and neck; “locking up” of muscles is common; 30% due from cardiac complications; affects gastrointestinal system, vision, heart, and/or respiratory system

facioscapulohumeral muscular dystrophy (FSHD)

• Inheritance: autosomal dominant; onset varies from age 7 to 20; earlier onset → more severe symptoms / faster progression

• Gender: affects both males and females

• Dystrophin levels: normal; caused by inappropriate activation of the DUX4 gene in adult skeletal muscle cells

• Cognition: no impact

• Muscles and movement: NO cardiac involvement; weakness begins with the facial muscles and progresses down the body; weakness not usually symmetrical; atrophy, winged scapula; Beevor sign (neck flexion → navel moves toward head) present

Emery-Dreifuss muscular dystrophy (EDMD)

• Inheritance: X-linked recessive (mom-to-son); less common form of MD

• Gender: primarily affects boys by age of 10

• Dystrophin levels: normal; caused by absence or deficiency of emerin or abnormalities in lamin proteins

• Cognition: no impact

• Muscles and movement: formation of muscle contractures before any significant muscle weakness recognized; elbows contracted to 90 degrees; muscle weakness generally symmetrical; cardiac complications common (pacemaker needed); cardiac and pulmonary complications often cause death

What is the prevalence of muscular dystrophy?

1 in ever 5000 people; Duchenne and Becker MD are most common types; affects all races, ages, and genders worldwide

What are the diagnostic tests for muscular dystrophy?

bloodwork for genetic testing, electromyography (EMG), muscle biopsy

What are the components of muscular dystrophy maintenance?

respiratory maintenance, skin integrity (risk of infection), pain (joint stretching), nutrition, OT and/or PT, drug intervention, surgical management

How is muscular dystrophy medically managed?

cortocosteroids, immunosuppressants, anticonvulsants

How is muscular dystrophy surgically managed?

tracheostomy, spinal stabilization, contracture release, pacemaker

What are some advances in medical management related to muscular dystrophy?

drug-based therapy, genetic modification therapy, gene replacement therapy

What developmental condition is this describing:

• genetic disorder (autosomal recessive)

• related to mutation in the chemical structure of hemoglobin

• characterized by acute pain crises

• penicillin given prophylactically

• complications and co-morbidities include infection, acute chest syndrome, asthma, visual deficits, and avascular necrosis

• named after a farm tool

• there are several types of this disorder

• delayed maturation and growth deficits common

sickle cell

sickle cell

inherited RBC disorders characterized by abnormal hemoglobin (sticky, brittle, crescent shapes) that get stuck and clot blood vessels, decreasing oxygen transport; RBCs only live 10-20 days

What are the different types of sickle cell disease?

hemoglobin SS (HbSS), hemoglobin SC (HbSC), hemoglobin S beta thalssemia (HbSβ), hemoglobin SD, hemoglobin SE, and hemoglobin SO

hemoglobin SS (HbSS) disease

sickle cell disease in which two copies of the hemoglobin S gene are inherited, one from each parent; most severe form of the disease; aka sickle cell anemia; life expectancy in the 40s

hemoglobin SC (HbSC) disease

sickle cell disease in which the hemoglobin S gene is inherited from one parent and a different abnormal hemoglobin gene is inherited from the other parent; milder form, life expectancy in the 60s

hemoglobin S beta thalssemia (HbSβ) disease

sickle cell disease in which one copy of hemoglobin S gene is inherited from one parent and one copy of beta thalassemia is inherited from the other; beta thalassemia gene can be “zero” or “plus” (“zero” is usually more severe and considered a form of sickle cell anemia)

How are hemoglobin SD, hemoglobin SE, and hemoglobin SO disease classified?

additional forms of sickle cell disease in which one copy of hemoglobin S gene is inherited from one parent and a copy of a different abnormal hemoglobin is inherited from the other

What is the etiology of sickle cell disease?

50,000 years ago, central Africa warmed and mosquitos became more abundant and began feeding on people → 20,000 years ago, spontaneous genetic mutation developed to protect against malaria

What is the prevalence of sickle cell disease?

• global: most common monogenetic disorder; impacts 7% of world population, but highest in sub-Saharan Africa; 312,000 children born with SCA worldwide; ~ 64% of newborns in sub-Saharan Africa have SCA

• U.S.: 100,000 people affected; 2 million carry trait; ~ 3000 children have SCA; 1/365 African-Americans diagnosed with SCD at birth; 1/13 African-Americans carry sickle cell trait; 1/16,300 Hispanic-Americans diagnosed with SCD at birth; 1/144 Hispanic-Americans carry sickle cell trait

What are the signs and symptoms of sickle cell disease?

crescent-shaped RBCs with reduced ability to carry oxygen, chronic anemia, tiredness / weakness, irritability, pale skin, delayed puberty, jaundice, increased HR, vasoocclusive events, severe pain, stroke, tissue damage, pain crisis, dactylitis (hand-foot syndrome), priapism (painful penile erection)

What can trigger a pain crisis in sickle cell disease?

stress, illness, dehydration, sudden change in temperature

What are the complications associated with sickle cell disease?

splenic complications and infection (acute splenic sequestration → splenomegaly → severe anemia), respiratory complications (acute chest syndrome, sleep disordered breathing), stroke (risk of intellectual deficits, avascular necrosis of femoral head), visual deficits (retinopathy), delayed maturation, developmental delay and cognitive deficits

What are the health outcomes for people with sickle cell disease that are tied to systemic racism and oppression?

inaccessible adequate specialty care, less research funding received, majority rely on government-supported programs, “sicklers” (deprecatory term), waiting up to three hours for pain relief

What is the general focus of sickle cell disease management?

newborn screening (blood tests, hemoglobin electrophoresis, DNA testing, sickle SCAN), frequent pain / hospitalization management, academic achievement and cognitive challenges, impact on caregiver-child relationship (high caregiver stress), depression/anxiety, morbidity/mortality increase in adolescence, high stroke/infection risk in adulthood

How is sickle cell disease medically managed?

penicillin (in children under 5), folic acid (benefits contested), hydroxyurea (most promising), endari (reduces pain crises), ultrasound (transcranial doppler for ischemic strokes), gene therapies

How is sickle cell disease surgically managed?

blood transfusions, hip replacements, splenectomy, bone marrow transplant