Developmental Disorders (Part 1) - Fall 2024 Lecture Notes PDF

Developmental Disorders (Part 1) PT 546 Fall 2024 Dr. Brennan Learning Objectives: Upon completion of this lecture, for each given pathophysiology, the student will be able to: Apply knowledge of the foundational sciences to clinical sciences in the areas...

Developmental Disorders (Part 1) PT 546 Fall 2024 Dr. Brennan Learning Objectives: Upon completion of this lecture, for each given pathophysiology, the student will be able to: Apply knowledge of the foundational sciences to clinical sciences in the areas of normal and abnormal human structure, function and response to injury and disease. Explain the basic pathophysiology for each specific disease process/condition. Discuss the etiology with respect to types and mechanisms of tissue injury (traumatic, non-traumatic, infection, disease) as it relates to a given disease process or condition. Articulate the incidence and prevalence of a specific disease process or condition. Describe the signs and symptoms and clinical course of a specific disease process or condition. Discuss the appropriate diagnostic criteria for a specific disease process condition, including evaluation of current methods of diagnostic imaging. Learning Objectives: Upon completion of this lecture, for each given pathophysiology, the student will be able to: Contribute knowledge in the area of neuromuscular clinical medicine to the process of differential diagnosis for patients across the lifespan. Describe the specific medical and/or surgical intervention indicated for a given disease process or condition. Utilize clinical medicine knowledge to contribute to the synthesis of a prognosis as well as recovery time, following disease, injury, or surgery. Develop the foundational knowledge in the area of neuromuscular clinical medicine, necessary to then synthesize a diagnosis, prognosis and plan of care for a given patient/client. Apply the knowledge of neuromuscular pathology within this course to substantiate a rationale for intervention strategies for the patient with neuromuscular pathology. Incidence vs Prevalence Incidence: # new cases in a given time frame Prevalence: # of individuals who currently have the disease (in a given area/country/state) Development Conception through adolescence Prenatal Perinatal Postnatal Problems in Brain Development Errors in embryonic development of CNS structures May be caused by genetic problems, teratogens or influenced by maternal diet Anencephaly Neural tube defect Cephalic end of neural tube fails to close Results in absence of forebrain and cerebrum, skull, and scalp May have brainstem with respiratory function and reflexes Newborns do not have consciousness, vision, hearing, or ability to feel pain Prognosis: stillborn or will usually die within hours or days after birth. Anencephaly https://www.researchgate.net/figure/2D-ultrasound- image-of-acrania-exencephaly-anencephaly-sequence- AEAS-at-12-A-and-22_fig1_360556994  Microcephaly Circumference of head is significantly smaller than average for age and gender Face continues to develop at normal rate while head fails to grow. May be related to presence of other disorders which should be identified Microcephaly  Microcephaly Poor prognosis for typical brain function Motor abilities range from clumsiness to spastic quadriplegia Decreased life expectancy Porencephaly Cyst like cavities form in a cerebral hemisphere Can be acquired (stroke, infection) or genetic resulting in abnormal development Often see a hemiplegic type presentation, delayed development, seizures, hydrocephalus, intellectual disability Prognosis dependent on location and extent of lesion Porencephaly https://radiopaedia.org/articles/porencephaly Lissencephaly Means “smooth brain” Lack of normal convolutions in brain Caused by defective neuronal migration (nerve cells move from place of origin to permanent location) during development Symptoms: FTT, seizures, developmental delays, difficulty swallowing (dysphagia), microcephaly, learning differences, congenital limb differences of hands, fingers, toes Prognosis: many die before age 2, range of near normal development and cognition to no significant development past a 3-5 month old level. Lissencephaly https://radiopaedia.org/cases/lissencephaly-pachygyria-spectrum-3 Terminology Related to Birth Gestational Age Typical gestation is 40 weeks in humans Infant born at 37-42 weeks: Full Term Infant born earlier that 37 weeks: preterm Late preterm: baby born between 34-36 weeks of pregnancy Moderately preterm: baby born between 32 and 24 weeks Very preterm: baby born less than 32 weeks of pregnancy Extremely preterm: baby born before 25 weeks of pregnancy Terminology Related to Birth Developmentally we will “correct” for prematurity up to 2 years (nationally varies between 1-2 years) Example: A 6-month-old born at 28 weeks would have an adjusted age of 3 months and should developmental skills appropriate for a 3- month-old Let’s do the math….. 40 weeks (full term) – 28 weeks (gestational age) = 12 weeks premature 24 week old baby (6 month old) – 12 weeks premature = 12 week adjusted age (3 months adjusted age) Terminology related to birth- APGAR score Tested at 1 and 5 minutes after birth https://www.medpagetoday.com/pediatrics/generalpediatrics/87380 https://youtu.be/Vtxsxv1BQek Terminology Related to Birth Birth weight Full term 2500-4100grams (5.5-9.0 lbs) Low birth weight (LBW) below 2500 grams (5.5-3.3 lbs) Very Low Birth Weight (VLBW) below 1500 grams (3.3-2.2lbs) Extremely Low Birth Weight (ELBW) below 1000 grams (