Hello, my name is Rajeshwari Srinivasan. I will be talking about Normal Development and Cerebral Palsy Part 1. This is being recorded as part of the Pediatric Rehab Focused Board Review. This lecture was originally developed in 2017 by Dr. Cath Kalaski of Wake Forest University Health Sciences. I have nothing to disclose. Neurodegenerative disorders are fairly common. It affects approximately 20% of children. They often go undetected without screening. Early detection is important as this helps improve outcomes with early intervention and special education. Early detection consists of two parts, ongoing surveillance and periodic screening. Periodic screening is important to identify children with unsuspected developmental delay who need further evaluation. It also helps in identifying high-risk populations as in premature infants. Intrauterine growth factors are also an important factor in developmental disorders. Growth hormone and insulin growth factor are important postnatal factors. Insulin growth factor is important for fetal growth. The thyroid hormone is important for central nervous system development. Fetal weight gain is noted to be greatest in third trimester. Knowing a few of these is beneficial in identifying which part is involved in the developmental delays. Early growth trends with respect to weight. Typically birth weight is reached by about two weeks. During the first three months, weight gain is one kilogram per month. At five months, birth weight is doubled. It's tripled by 12 months and then children gain half a pound per month. After two years, birth weight is quadrupled and then they gain four to five pounds per year. It's important to track growth parameters to follow growth patterns. Growth percentiles are usually stabilized by 18 months. Specialized growth charts exist for children with prematurity, Down syndrome, myelomeningocele, Fredo-Willi syndrome, cerebral palsy, and Williams syndrome. Growth trends for height include at zero to 12 months, children grow about 10 inches or 25 centimeters. One to two years, the growth is about five inches or 13 centimeters. At two to three years, they grow about three and a half inches a year. Adolescent children double their birth height by three to four years of age. From three years to puberty, children grow about two inches a year or five centimeters a year. Head circumference trends from zero to three months, the head grows about two centimeters a month. Four to six months, it is one centimeter a month. Six to 12 months is half a centimeter a month. One to two years is two centimeters a year. At the end of the first year, it's important to remember that weight is usually increased by about six kilos totally from the birth weight, the head circumference has increased by 12 centimeters, and height has increased by 24 centimeters, so six, 12, and 24. Cognitive reflexes are brainstem mediated complex automatic movement patterns which start as early as 25 weeks of gestation and are fully present at birth in term infants. They are difficult to elicit as the central nervous system is maturing with cortical inhibition emerging and voluntary motor activity emerging. They are considered to be stereotypical patterns elicited by specific sensory stimuli which are part of motor repertoire of the specific age. Persistence of primitive reflexes beyond the age of suppression is a red flag. So a few of the important primitive reflexes are tonic labyrinthine reflex, where the stimulus is the head position in space, and the response usually seen as extensor tone while supine and flexor tone while cone. The purpose or importance of this is it's the basis for head management and postural stability using major muscle groups. This is usually suppressed by four to six months. The symmetric tonic neck reflex stimulation is with either neck flexion or extension when one sees arm flexion and leg extension or arm extension and leg flexion respectively. The purpose is it's preparatory for crawling and is usually integrated by nine to 11 months and it's suppressed by six to seven months. It's important to remember that the crawling usually is integrated at nine to 11 months. Asymmetric tonic neck reflex or the fencing position stimulus is the head is tilted or turned to side. Response is extension of the extremities on the chin side and flexion of the extremities on the occipital side. This usually helps facilitate the baby through the birth canal and is suppressed by seven months. The rooting response stimulus is stroking the side of the lips or mouth. Response is moving the tongue, mouth, and head towards the side of the stimulus. This usually helps with feeding and goes away by four months. Vascular response or the straddle response stimulus is usually neck extension or labyrinthine position. Response is symmetric abduction and extension of the upper extremities with extension of the trunk and followed by adduction of the extremities. If it is asymmetric then that is abnormal and usually can be a result of shoulder dystocia and one should think of brachial plexus injuries at birth. Usually is gone by six to seven months. Palmer grasp stimulus is pressure or touching on the palm or it can be stretching of the finger flexors when flexion of the fingers is seen. However, if cortical pumping is seen that is considered abnormal. Palmer grasp usually disappears by six months. Plantar grasp stimulus is pressure on the sole of the foot just distal to the metatarsal heads. Response is flexion of the toes. The plantar grasp should be absent to help promote walking. It's usually suppressed by 12 months. Moving on to physiological postural reactions. There are three main physiological postural reactions. Headwriting response, protective equilibrium response and parachute response. These reactions usually emerge with maturation of the cortex. They are present throughout life. They are functional in nature and require cortical integration. Headwriting response is the ability to align the plane of vision parallel to the ground irrespective of the body position. Stimulus is usually visual and vestibular stimuli. Response is usually the face is aligned vertically and the mouth horizontally. Stimulus usually appears at three months and persists throughout life. The protective equilibrium response stimulus is displacement of center of gravity outside of the supporting surface and the response usually is that the child flexes his trunk towards the force and one arm extends to protect against falling. Usually appears between five to 12 months. When the anterior protective equilibrium is seen at five to seven months, the lateral protective equilibrium is seen at six to eight months and the posterior protective equilibrium response is seen at seven to eight months. The parachute response stimulus is the examiner allows the child to free fall in ventral suspension and the response is that the extremities extend symmetrically to distribute weight over a broad and more stable base upon landing. This usually appears at eight to nine months and persists. This is demonstrating the propping response or the protective equilibrium response and this is the parachute response. Normal development, so moving on to why we need to know about normal development. It is important to know normal development to be able to recognize what is abnormal. Normal development is a continual process building one function upon the other where mass activity is replaced by individual specific actions. It progresses cephalad to caudal, head to toe. Milestones in child development include at four months children achieve head control, at six to ten months they are babbling, seven to eight months they are able to sit, at ten months they are able to stand, creeping on all fours, they have a pincer grasp and are able to finger feed themselves. It may not be pretty but they are still able to do it. At 12 months they have single words, they are able to walk with aid, at 14 months they are able to walk alone with a wide basal support. At two years children are running, they may be able to climb stairs and show hand dominance. At three years they are able to ride a tricycle, they are able to jump, are usually toilet trained and they have three word sentences and are able to draw a circle. At four years they are able to hop, use a pencil and they are able to draw a cross. They are able to use scissors and are able to help dressing themselves. At five years they are able to skip and tie their shoes and have fluent speech. At six years they are able to use roller skates and usually know their alphabets. Earlier gross motor milestones include 75% of children have usually performed tasks by the said timings as shown in this slide. 75% of children are able to walk with a wide base with one hand held by 13 and a half months. They are able to throw a ball overhand at 22 and a half months. They are able to pedal a tricycle at two and three quarter years. They are able to balance on one foot for one second by three years of age. They are able to hop on one foot by four years. They are able to perform heel to toe walking at four and a half years and able to catch a ball that has been bounced to them at close to 4.8 years. They are able to dress themselves by 48 months. They are able to put shoes on, correct feet by 54 months and able to tie shoelaces by 60 months. Moving on to fine motor tasks, at 15 months a spontaneous scribble is seen. At 24 months they are able to imitate a vertical or circular strokes. At 36 months they are able to copy a circle. At 48 months they are able to copy a cross. At 54 months they are able to copy a square. And at 60 months they copy a triangle. Development of prehension progresses from a raking movement to a fine pincer grasp. A rake is where the thumb is adducted, proximal thumb joint is flexed and distal thumb joint is also flexed, usually occurs at five months. Radial palmar grasp where adducted totally flexed thumb with flexion of the fingers or with two partly extended fingers is seen. This occurs at seven months. Radial digital grasp is where between the thumb and the side of the curled index finger they are able to pick up objects where the distal thumb joint is slightly flexed the proximal thumb joint is extended and this appears at nine months. The inferior pincer grasp is seen between ventral surfaces of the thumb and index finger and distal thumb joint is extended, beginning thumb opposition seen at 10 months. The fine pincer grasp usually emerges at 12 months wherein they are able to pick up objects between the fingertips or fingernails with the distal thumb joint flexed and this slide depicts the pictorial representation of the same from a raking movement to a fine pincer grasp which appears at 12 months. Personal or social milestones, at two months babies have a social smile, at seven months they are able to talk to their own image in a mirror and are able to differentiate between a familiar person and a stranger, at 10 months they are playing peekaboo, at 18 months they are imitating housework, carrying or hugging a doll, at two years they are able to play feeding the doll with a bottle or spoon and they begin toilet training, solitary or parallel play emerges at this time and this should be screened to ensure that any possible diagnosis of autism is not missed. At three years most children are toilet trained and have learned how to take turns, at four years they have imaginative make-believe play and cooperative play, at five years they have creative play and competitive team play, at six years they are able to play table games. Language development, at eight weeks they begin to coo, at 12 weeks they are cooing and chuckling, at 16 weeks they are able to laugh loudly, at 24 weeks they have spontaneous vocalizations and begin to blow raspberries, at 32 weeks they have vocalization with single consonant sounds, at one year they have two words besides mama and dada, at 15 months they have four to six words including names using jargon speech, at 18 months they have ten words besides names, at two years they have a 250 word vocabulary with two word sentences, inflections begin around two and a half years of age, at four years girls are noted to exceed boys linguistically and they have about a four to six word sentence, at five years they have a 2,000 word vocabulary with five to six word sentences and increased use of speech in social interactions. Adaptive skills, at 32 weeks children are noted to be afraid of strangers, at 40 weeks they are able to search for hidden toys, at one year they are able to cooperate in dressing, at 15 months they are able to follow simple commands and point to the objects that they want, at 18 months they are able to seat themselves on a chair, feed with spoon and cup and point out pictures in book and two to three body parts. It's important to also note that if this skill has not had the opportunity with the family then they cannot be graded as being developmentally delayed. At two years children are able to undress, help with dressing, feed themselves with utensils and they do not want to share. At four years hand dominance is clearly established, they are easily able to separate from the parent, verbalize their fears and have cooperative play and they are usually able to dress themselves. At five years they know the addresses and phone number, they know basic colors and shapes and also know part of the alphabets. A few high yield facts, at one year of age child uses one word and is able to follow one step command, at two years child is using 2-3 word phrases and follows two-step commands and others can understand half of the child's language. At 3 years, the child is using three word sentences and others, meaning outsiders, can understand three quarters of the child's language. At 4 years, the child should be about 40 pounds, 40 inches tall and be able to draw a four-sided figure. A few red flags. We'll start with motor red flags. At 4 months, if there is lack of steady head control while sitting, or at 9 months, if there is inability to sit, 18 months, inability to walk independently, and if handedness is seen before 2 years, then these are considered to be motor red flags. Cognitive red flags include if at 2 months there is lack of fixation or at 4 months there is lack of visual tracking, 6 months failure to turn to sound or voice, at 9 months lack of babbling consonant sounds, at 24 months failure to use single words, at 36 months failure to speak in three-word sentences, and delayed speech or loss of speech could be related to hearing issues as well. Hence this should also be explored to help the children. Social and emotional red flags. At 6 months lack of smile or other joyful expressions or loss of babbling, at 9 months lack of reciprocal vocalizations or smiling or other facial expressions, at 12 months failure to respond to name when called, absence of babbling, or if there is lack of reciprocal gestures, at 15 months if there is lack of proto-declarative pointing or other showing gestures, or if there is lack of single words, at 18 months if there is lack of simple pretend play or lack of spoken language with gesture combination, at 24 months if there is lack of two-word meaningful phrases without imitating or repeating, at any age if there is loss of previously acquired babbling or speech or social skills, that is a huge red flag. Autism is a neurodevelopmental disorder which is characterized by difficulties in social interaction and communication and by repetitive restrictive behavior. Hence it is important to recognize any of these social and emotional red flags to have an early diagnosis of autism. Moving on to cerebral palsy and its definition. This is the most common cause of motor disability in children. It is a heterogeneous group of disorders with early onset of symptoms where the symptoms persist but change over the course of time with growth and there is no cure. The official definition is cerebral palsy is a non-progressive brain abnormality which affects the immature brain causing disorders of posture and movement. It is associated with comorbidities which include difficulties with sensation or with perception, cognition, communication and behavior. These children can have seizures and secondary musculoskeletal problems. Epidemiology of cerebral palsy prevalence. It affects children about 1 to 5 per thousand live births worldwide. In Europe and Australia it is 1.7 to 2.1 per thousand live births. In the US it is 2.7 to 2.9 thousand live births. It is noted to be higher in preterm births and increases with decreasing gestational age. Prematurity is considered to be one of the antecedents for cerebral palsy. Trends noted are it is decreasing in preterm and has been stable in the term infants. Overall incidence is generally been relatively stable. Risk factors are classified as prenatal risk factors, perinatal risk factors and postnatal risk factors. Prenatal risk factors include major birth defects, genetic factors, fetal growth restriction, maternal infection or including the torch infections which are toxoplasmosis, rubella, cytomegalovirus and herpes. Multi-pares births and are associated with highest risk in term infants. Perinatal causes include prematurity, intrapartum events, breech presentation, birth complications which can include placental detachment, core problems, uterine rupture. Birth asphyxia accounts for less than 10% cases of cerebral palsy. Postnatal causes include trauma, infection, coagulopathies which include sickle cell disease, clotting deficiencies etc. This is a pictorial representation of the various types of cerebral palsy that are seen. Which of the following is true regarding risk factors for cerebral palsy? A. Prenatal factors are likely to be major contributor. B. Problems during labor and delivery cause a high percentage of cases of cerebral palsy. C. Prematurity is no longer considered a major factor. D. Most children diagnosed with cerebral palsy are born prematurely. Answer, prenatal factors are likely to be major contributor or A. Explanation for this is prenatal factors are currently acknowledged to have a major role in the pathogenesis of cerebral palsy. Prematurity still remains the strongest perinatal risk factor for cerebral palsy. The prevalence is significantly higher in preterm infants implicating factors other than prematurity. While birth complications and breech presentation are also risk factors, intrapartum events causing prenatal asphyxia account for less than 10% of cases of cerebral palsy birth. However, most cases of cerebral palsy occur in babies born at or near term. Moving on to diagnosis of cerebral palsy, it is multifactorial and hence it is important for us to approach it looking at all aspects of afflicted systems. Historical risk factors should be elicited. A neurological examination should be done thoroughly. Neuroimaging is beneficial in making the diagnosis and standardized motor assessments are also helpful in the diagnosis of cerebral palsy. Neuroimaging and cerebral palsy, 90% are abnormal depending on the timing of the insult. Most commonly causes are prenatal. The type of insult can be destructive, again which includes 90%, wherein the periventricular white matter injury is seen and deep grey matter injury can also be seen. Brain maldevelopment is seen in 10% of the cases. Genetic factors may also contribute to this. There may be a normal neuroimaging seen in about 10%. Classification based on motor disorder, spastic type of cerebral palsy is seen in 80-90% of cases. Dyskinetic cerebral palsy accounts for 10-20% which includes athetosis, chorea and dystonia. Ataxic or hypotonic cerebral palsy accounts for 1-10% of cases and mixed cerebral palsy is also seen. They can also be classified based on the limb involvement which is usually associated with spastic cerebral palsy. Traditionally they were described as hemiplegia where one half of the body was affected, diplegia where the lower extremity was affected more than the upper extremities, quadriplegia where all four extremities were affected. Current classification also looks at unilateral or bilateral presentations. However, we now have functional classification which is independent of cerebral palsy motor type or distribution. We have five point ordinal scales. There are four available scales that are in use. The gross motor functional classification system, manual ability classification system, communication function classification system, eating and drinking abilities classification system. The gross motor classification system, level 1, the child is able to walk without any limitations. With level 2, they are able to walk with some limitations. Level 3, they are able to walk using a handheld mobility device. Level 4, self-mobility is with limitations and they may use powered mobility. Manual ability classification system looks at the ease with which a child is able to handle objects and again this is also a five point scale going from 1 where the child is able to handle the objects easily and successfully to 5 where the child is not able to handle objects and has severely limited ability to perform even simple actions. Important things to remember are distinctions between level 1 and 2. Children in level 1 may have limitations in handling very small, heavy or fragile objects which demand detailed fine motor control or efficient coordination between hands. The limitations may also involve performance in new and unfamiliar situations. Children in level 2 perform almost the same activities as children in level 1 but the quality of performance is decreased or the performance is slower. Functional differences between hands can limit effectiveness of performance. Children in level 2 commonly try to simplify handling of objects. For example, by using a surface for support instead of handling objects with both hands. Distinctions between levels 2 and 3, children in level 2 are able to handle most objects though slowly or with reduced quality of performance. However, in level 3 the children commonly need help to prepare the activity and or require adjustments to be made to the environment as their ability to reach or handle objects is limited. They cannot perform certain activities and their degree of independence is related to the supportiveness of the environmental context. Distinctions between level 3 and 4, in level 3 children can perform selected activities if the situation is pre-arranged or if the situation is already set up for them and if they get supervision and have ample time. However, in level 4 they need continuous help during the activity and can at best participate meaningfully in unique parts of an activity. Distinctions between level 4 and 5, in level 4 they are able to perform part of an activity however they need help continuously. In level 5 they may at best participate with a simple movement in special situations as seen by pushing a button or occasionally holding on demanding objects. Communication Function Classification System also goes from most functional to least functional where level 1 comprises of an effective sender and receiver with familiar and unfamiliar partners. Level 2 effective communication but slower with familiar and unfamiliar partners. Level 3 is most effective with familiar partners. Level 4 is inconsistent with familiar partners and level 5 which is least functional is seldom effective even with familiar partners. The Eating and Drinking Ability Classification System is based on is the individual able to, how are they able to eat, how are they able to swallow food, are they able to drink without risks of aspiration. At level 1 they are able to eat and drink safely and efficiently. At level 2 they are able to eat and drink safely but with some limitations to efficiency. At level 3 they are able to eat and drink with some limitations to safety and maybe having some limitations to efficiency. Level 4 they are able to eat and drink with significant limitations to safety. At level 5 they are unable to eat or drink safely and hence would consider tube feeding to help provide nutrition. Early Detection of Cerebral Palsy has been shown to be beneficial using certain tools as listed on the slide. HINE or the Hammersmith Infant Neurological Examination, the GMA or the General Movement Assessments and the HNNE or the Hammersmith Neonatal Neurological Examination. All these are valuable in monitoring and in early detection of cerebral palsy. The HINE or the Hammersmith Infant Neurological Examination is proposed as one of the early neurological examination tools for diagnosis of cerebral palsy. It was designed for evaluating infants between 2 months and 24 months of age. It includes 26 items assessing differing aspects of neurological examination like cranial nerves, posture, movements, tone and reflexes. It is easy to perform and is accessible. It can be completed in 5-10 minutes and has a very good inter-observer reliability. This slide shows the different aspects of the HINE that are monitored looking at the posture, the arm recoil, arm traction, leg recoil, leg traction, the popliteal angle, head control, head lag and ventral suspension. General Movement Assessment is a non-invasive and cost effective way to identify neurological issues which leads to cerebral palsy and other developmental disabilities. The assessment can be completed from birth to 20 weeks of age, corrected for prematurity. Typical spontaneous movements are present from before birth to 20 weeks post term. Absent or abnormal movements indicate neurological conditions. The diagnosis can be as early as 3 months post term age. The HNNE is a quick, practical, easy exam. It consists of 34 items where one assesses the tone, motor patterns, observation of spontaneous movements, reflexes, visual and auditory attention and behavior. It is standardized in cohorts of typically developing children. This was developed by Lily and Victor Dubowitz. Measures to detect efficacy of treatment of hypertonia. For lower extremity function, GATE parameters are used, instrumented and clinical assessments, GMFM, GMPM and a 6 minute walk test. Upper extremity function, Melbourne assessment, QUEST, global function, PD, WEFIM. Individualized goal attainment include COPM and GAS. Quality of life, child health questionnaire, caregiver questionnaire. These are my references.

neurodevelopmental disorders

early detection

developmental delays

cognitive reflexes

motor skills

cerebral palsy

diagnosis and assessment