MARROW
NORMAL DEVELOPMENT & DEVELOPMET ASSESSMENT
Objectives
Should be able to
§describe the development process
§describe the major domains of development
§describe the normal development and millstones
from birth to 5 years
§discuss the importance of development assessment/screening
§describe the modes of monitoring of development of a child in Sri Lanka & globally
What is development?
§Acquisition of skills & knowledge.
§Continuous process from conception to maturity of function as an adult.
Depends on
§ Maturation of CNS- Genetic potential
§ Opportunities to learn & practice- Environment influences
Why is developmental assessment important?
§Early diagnosis, treatment & help for the child with special needs
§
§Identify causes & prevention of further damage
§
§Ensure physical & mental normality and achieve full potential
Domains of development?
§Gross motor (Locomotion & posture)
§ Vision & Fine motor
§ Hearing, Speech & language
§ Social,emotional & behavioural
Development process
§Consistency in the pattern
§ Sequence – cephalo caudal in motor development
§
§There is a wide range of normality in rate &timing
§
§Limit ages should be recognized
§Sequential observation is important
Developmental milestones
§Median Age
Age of 50% children achieve the development milestone
§Limit Age
Age which a baby should have achieved
(usually >2SD from mean)
Components of development assessment
§ History, developmental milestones
§
§ Developmental examination
v
(should attempt only when the child is comfortable, not ill, not hungry / not sleepy )
Newborn baby
§Position of ventral suspension/prone/supine
§ In supine and prone position keeps arms & legs flexed , back curved
§When pulled to sit - Marked head lag
§Able to hear - Startle to loud noises
§Able to see - Turn towards diffuse light
§Display Primitive reflexes (Moro,Stepping,Grasp)
At 6 weeks
§Vision- focus & follows mother’s face
§Hearing – stops whimpering to human voice
§Speech-responsive talk with mother-cooing
§Social- Smiles with mother
§In prone position lifts the head 450
At 3-4 months
§ Gross motor - Head control +
§ Vision / fine motor – Hand regard, finger play
§ Hearing / Speech – Vocalizes pleasure
At 6 months
§Gross Motor – Sits with support
§Fine Motor – Grasps & Transfer objects
§Social – Recognizes strangers , Smile/ Vocalizes at mirror image
§Speech – Mono syllables (Ba, Ma)
AT 8 months sits without support with straight back
AT 9 months
§Gross Motor – Stands with support
§Fine Motor – Index finger approach , Pincer grasp
§Social – Waves ‘bye’ Imitate clapping
Plays peek-a-boo
§Speech – may start with simple words “baba”
10 months -
walks around furniture
AT 12 months
§Gross Motor – Walks with/without support
§Speech – 2-3 words
§Fine motor- scribbles with pencil
drinks from a cup
Variations in motor development
At 18 months
§Gross Motor – Climbs stairs holding railings
§Fine Motor – Builds a tower of 3 cubes
§Social- Points to parts of the body , feeds from a spoon, drinks from a cup
Around 2 years
§Gross Motor – Climbs stairs alone, 2 feet /step
§Fine Motor – Builds a tower of 6-7 cubes
§Social – dry at night , parallel play
§Cognitive - Points to things or pictures when they are named
§Begins to sort shapes and colors
§Speech – 3-4 word sentences
§Copies straight lines
Aorund 3 years
§Does puzzles with 3 or 4 pieces
§Copies a circle with pencil or crayon
§Turns book pages one at a time
§Builds towers of 9 blocks, imitate a bridge
§Runs easily, jumps
§Pedals a tricycle (3-wheel bike)
§Walks up and down stairs, one foot /step up & 2 feet /step down
§Put on a T shirt
§Stands on one foot for 1 sec , throw a ball
§ Sing a simple nursery rhyme
§ Name 3 colours
§Sharing objects
§Interactive play
§Count up to 10
At 4 years
§Sings a song or says a poem from memory
§Tells stories
§Can say first and last name
§Names 5-6 colors
§Draws a person with 2 to 4 body parts
§Uses scissors
§Hops and stands on one foot up to 3 seconds
§Dresses and undresses self
§Plays board or card games
§Can thread smaller beads
At 5 years
§More likely to agree with rules
§Likes to sing, dance, and act
§Shows concern and sympathy for others
§Is aware of gender
§Is sometimes demanding and sometimes very cooperative
§Tells a simple story using full sentences
§Can tie shoelaces
§Can draw a person with at least 5-6 body parts
§Copies a triangle
§Hops; may be able to skip
§Can do a somersault
§Uses a fork and spoon
§Can use the toilet on their own
Developmental screening tools
§Denver development scale
§Griffiths development scale
§Bailey development scale
Summary
§Development is a continuous process of acquisition of skills & knowledge
§Early diagnosis, treatment is important to support the child with developmental disorders /special needs
§ Domains of development motor/fine motor & vision. hearing and speech, social
§Wide range of normality and sequential observation is important
§Important developmental milstones is checked during routine health visits
Growth vs development
- Growth – Increase in size – Measurable – quantitative
- Development – Implies maturation of function - acquisition of skills
– Not measurable
– qualitative
Child development
- Child development is used to describe the skills acquired by children
- When we talk about development we think of age between birth and about 5 years of age.
During this time there are rapid gains in mobility, speech and language, communication and independence skills
- Developmental milestones are key skills that children develop as they age. e.g. responsive smile, raising the head, sitting, standing, walking etc.
- Parents often remember these proud moments.
- Children normally reach these milestones at predictable ages, give or take a few weeks.
- Each child is different, even in the same family.
- Some children learn to sit without support earlier while other children say full sentences earlier.
Knowing when these milestones are supposed to happen can help parents notice when they do happen.
What does child development depend on?
- A child’s development represents the
interaction of heredity and the environment
on the developing brain
- Heredity determines the potential of child
- Environment influences the extent to which
the potential is achieved
Is there a normal pattern of acquisition of skills?
- The acquisition of developmental abilities for each
skill field follows a remarkably constant pattern
between children, but may vary in rate.
- Developmental skills are achieved in a sequential
pattern
What is the sequence
Development always proceed in a cephalo-caudal
manner. i.e. from head to toe
e.g. a child will learn to hold the head before being able
to sit, stand or walk.
- Also development proceeds from proximal to distal
e.g. control over movements at the shoulder is seen before
control over fingers
- This sequence remains the same
What is the rate?
- Although the sequence of appearance of these
skills is remarkably constant the rate at which they
appear vary quite a bit between children.
- Children will be doing more or less the same things
in the same pattern, but at slightly different ages
Delap in development?
- Sometimes, children do not reach milestones in the normal age range.
- When that happens, parents may worry.
- So we need to know what can be considered as normal and what is abnormal
This is the time that health professionals see the child.
- It is important that you know when these skills
are supposed to appear
- Also, if the skill has not appeared when you
should worry
- If not you will unnecessarily intervene and add
to the parents worry
Who detects?
- Apart from parents there are others who may pick up that all is
not well.
- Who are they?
– FHW at Child Heath Clinics
– Day care centre workers / Preschool teachers when they see children in
those settings
– Doctors when children come for unrelated complaints
– Doctors and other health care workers when formal developmental
screening is done
Developmental age?
- Median age and limit age of acquisition of skills
Median age
This is the age when 50% of a population of normal children has achieved that skill
e.g. median age for walking (unsteadily) is 12 months
However, if a child is not walking at 12months you do not worry unnecessarily, because you know that 50% of normal children will walk after 12 months
- Limit age
When you take a normal population of children and look at any feature (e.g. weight, height, developmental milestone) you see that it is in the form of a gaussian distribution
95% of normal children fall between 2SD from the mean
If you fall outside 2SD’s from the mean you consider it abnormal
Limit ages are arrived using this principle.
- Limit ages tell us the outside limit for acquisition of a skill
- Limit ages are also know as “red flags”
- It is important to know the limit ages to know when to intervene
Median ages are important to decide what a child at a certain age should be able to do.
e.g. a 12month old child is likely to walk unsteadily, have mature pincer grasp, say two words, wave bye- bye, drink from a cup, identify familiar people and be wary of strangers
This is what you see in the charts
which show developmental milestones
Child with developmental delay (need to add?)
Objectives
§Definition of Development Delay /Global Development Delay
§Common Causes of GDD
§ Early Recognition of GDD
§ Approach to a child with developmental delay
Development delay
Failure of development with lifelong intellectual impairment and accompanying disabilities in social functioning
Global developmental delay
§Significant delay (< 2SD ) in at least two developmental domains
§ Gross Motor
§ Vision & Fine motor
§Speech & language
§Social & emotional
§Reserved for children <5 years old
Specific developmental delay
§Specific developmental delay
delay in a single domain (e.g. Speech & Language)
Intellectual disability (ID) Intellectual developmental disorder (IDD)
§Reserved for children >5 years old
§Deficits in intellectual functions, such as reasoning, problem-solving, abstract thinking, academic learning
§Limited functioning in one or more activities of daily life, such as communication, social participation and independent living
§The diagnosis of GDD < 5 years old & children often evolve to meet diagnostic criteria for ID and probably represent the same population
§Aetiology of GDD can be identified in many cases (40% to 80%)
§A diagnosis is critical because it allows for
- Timely initiation of causal treatment or supportive management (stimulation therapy + multidiscliplinarian approach)
- Prevention of complications
- Improved prognostication
- Accurate genetic counselling regarding recurrence risk and prenatal genetic diagnosis, when indicated,
- Better access to services in the community
- Avoidance of inappropriate, costly and traumatizing tests
How do you idenitify development delay?
Denver developmental screening test - 2
§Very commonly used screening tool
§Birth to 6 years old
§10-20 minutes to administer
§Normed on diverse population sample
§Multiple languages
§Domains -fine and gross motor, language, and social skills
Bayley Developmental Scale
- Ages 3 to 24 months
- Direct observation of skills by provider (mostly neurological?)
- 10-15 minutes to administer
How do you identify?
Principles on development assessment
§Listen to parents
§May need to see a child a second time
§Opportunistic pick up
§The state of the child-take into account
§Distinguish developmental items reported and observed
Patterns of delay in development
Severity of abnomal development
- mild, moderate or severe?
- more apparent with time with delayed
CAUSES OF GLOBAL DEVELOPMENTAL DELAY
PRENATAL + PERINATAL + POSTNATAL
Causes of DD - Prenatal
Genetic: Chromosomal abnormalities
§Down syndrome (most common) - Trisomy 21
§Edward syndrome - Trisomy 18
§Patau syndrome - Trisomy 15
§Fragile X syndrome - Fragile site in X
§Turner syndrome - XO
Down sydrome
- usually caused by trisomy 23...less commonly a translocation or mosaid
Other associations
Other associations
§ C.H.D 50%( AV canal defect, VSD, others )
§ duodenal atresia / oesophageal atresia
§ higher incidence of Hypothyroidism
§ low IQ (mean 50)
§ higher incidence of AML
§ higher incidence of refractory errors
§ higher incidence of middle ear disorders , secretory otits media
§ height is impaired- special growth charts
Neurocutaneous syndromes
- mostly autosomal dominant
What are neurocutaneous syndromes in children?
Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems. Each disorder has different symptoms. The most common disorders in children cause skin growths.
The 3 most common types of neurocutaneous syndromes are:
- Tuberous sclerosis (TS)
- Neurofibromatosis (NF), including NF1, NF2, and Schwannomatosis
- Sturge-Weber disease
What causes a neurocutaneous syndrome in a child?
These diseases are all present at birth (congenital). They are caused by gene changes.
Tuberous sclerosis (TS) is an autosomal dominant disorder. Autosomal means that both boys and girls are affected. Dominant means that only 1 copy of the gene is needed to have the condition. A parent with TD or the gene for TD has a 50% chance to pass the gene on to each child. Many children born with TS are the first cases in a family. This is because most cases of TS are caused by a new gene change (mutation), and are not inherited. But the parents of a child with TS may have very mild symptoms of the disorder. The parents are believed to have a slightly increased risk of having another child with TS.
Neurofibromatosis Type 1 (NF1) occurs in about 1 in 3,000 to 4,000 babies in the U.S. NF1 is an autosomal dominant disorder. It’s caused by changes in a gene on chromosome 17. In 50% of cases, this is inherited from a parent with the disease.
Neurofibromatosis Type 2 (NF2) is less common. It affects about 1 in 25,000 babies in the U.S. The gene change that causes NF2 is on chromosome 22.
A parent with NF has a 50% chance of passing on the genetic mutation and disease to each child.
NF may also be the result of a new gene change. From 3 in 10 to 1 in 2cases of NF are caused by a new mutation and not inherited. Boy and girls are equally affected.
Schwannomatosis is a form of NF. It is rare, and only 3 in 20 cases are inherited. There are 2 genetic forms of schwannomatosis:
- Schwannomatosis 1. This is caused by mutations in a gene called SWNTS1. This condition is also known as congenital cutaneous neurilemmomatosis.
- Scwannomatosis 2. This condition starts in adulthood. It causes schwannomas to grow throughout the body. But it has no other symptoms.
The cause of Sturge-Weber disease is not known. Researchers think it occurs by chance (sporadic). In some cases, other family members have hemangiomas. These are noncancer (benign) growths that are made of blood vessels. Some children with this condition may have mutations in a gene called GNAQ.
Which children are at risk for a neurocutaneous syndrome?
A child is more at risk for a neurocutaneous syndrome if he or she has a family member with one of the syndromes.
What are the symptoms of a neurocutaneous syndrome in a child?
Symptoms can occur a bit differently in each child. Below are the most common symptoms for each condition:
Tuberous sclerosis
This causes growths called tubers to grow in the brain and retina of the eye. Tuberous sclerosis also affects many other organs in the body. It can affect the brain, spinal cord, lungs, heart, kidneys, skin, and bones. It can also cause intellectual disability, developmental delays, seizures, and learning disabilities.
Neurofibromatosis Type 1 (NF1)
This is the more common of type of neurofibromatosis. It is also called Von Recklinghausen's disease. The classic symptom of NF1 is light brown patches of pigment on the skin. These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas. Neurofibromas are often found growing on the nerves and in organs. There is a higher rate of brain tumors in people with NF. Less than 1 in 100 people with NF1 will have cancer (malignant) in the neurofibromas. An older child may also have Lisch nodules. These are small tumors on the colored part of the eye (iris). These usually do not cause problems. Other symptoms can include hearing loss, headaches, seizures, scoliosis, and facial pain or numbness. Intellectual disability of varying degree may be slightly more common in people with NF1. About half may have a variety of learning problems and attention deficit disorder. Renal artery stenosis and other vascular problems may occur with NF1.
Neurofibromatosis Type 2 (NF2)
NF2 affects about 1 in 25,000 people. The symptoms usually appear between ages 18 and 22. The tumors called schwannomas grow on a vestibular nerve branch. These are known as bilateral vestibular schwannomas (BVS). These tumors on the 8th cranial nerve can lead to hearing loss, headaches, problems with facial movements, problems with balance, and trouble walking. A child may have hearing loss. Other signs of NF2 may include seizures, tumors of the membranes around the brain and spinal cord (meningiomas), skin nodules (neurofibromas), and cafe-au-lait spots.
Schwannomatosis
This type of neurofibromatosis causes schwannomas to grow through the body, but without other symptoms of NF1 or NF2. The main symptom is intense pain that occurs when a schwannoma grows larger or presses on a nerve or nearby tissue. Other symptoms may include numbness, tingling, or weakness in the fingers and toes.
Sturge-Weber disease
The classic symptom of this disease is a mark on a child’s face called a port wine stain. A port wine stain is a flat area on the skin that varies in color from red to dark purple. It is present from birth. It is most often found near or around the eye and forehead. The birthmark is caused by too many tiny blood vessels forming under the skin. There may also be related brain abnormalities on the same side of the brain as the face lesion. A child may also have seizures, muscle weakness, changes in vision, and intellectual disability. A child may also have increased pressure in the eye (glaucoma) at birth. Sturge-Weber disease does not affect the other organs of the body.
The symptoms of neurocutaneous syndromes can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.
How is a neurocutaneous syndrome diagnosed in a child?
The healthcare provider will ask about your child’s symptoms, health history, and developmental milestones. He or she may also ask about your family’s health history. He or she will give your child a physical exam. Your child may also have tests, such as:
- Genetic tests. These are blood tests.They check for health conditions that tend to run in families.
- MRI. This test uses large magnets, radio waves, and a computer to make images of the inside of the body.
- CT scan. This test uses a series of X-rays and a computer to create images of the inside of the body. A CT scan shows more detail than a regular X-ray.
- Electroencephalogram (EEG). This test records the brain's electrical activity through sticky pads (electrodes) attached to the scalp.
- Eye exam. This is done to check for growths on the retina and excess pressure in the eye.
- Biopsy. A small sample of tissue from a tumor or skin lesion may be taken. This is checked with a microscope.
How is a neurocutaneous syndrome treated in a child?
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Neurocutaneous syndromes are lifelong conditions that have no cure. Because of this, your child’s healthcare providers will work to:
- Manage symptoms
- Prevent or lessen problems
- Make the most of a child's abilities
A child is treated by a healthcare team that may include:
- Pediatrician or family doctor. This is a child’s primary healthcare provider.
- Neurologist. This is a doctor who treats conditions of the brain, spinal cord, and nerves.
- Neurosurgeon. This is a surgeon who treats the brain and spinal cord.
- Orthopedic surgeon. This is a surgeon who treats muscles, ligaments, tendons, and bones.
- Ophthalmologist. This is a doctor who treats eye problems.
- Oncologist. This is a doctor who treats cancer and other tumors.
- Nurse. This is a healthcare provider who often works with other healthcare providers.
- Rehabilitation team. These include physical, occupational, speech, and audiology therapists.
Treatment varies as needed. In some cases, surgery may be done to remove tumors that may be cancer or for cosmetic reasons.
Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.
How can I help prevent a neurocutaneous syndrome in my child?
Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for a neurocutaneous syndrome in a future pregnancy.
How can I help my child live with a neurocutaneous syndrome?
A neurocutaneous syndrome is a lifelong condition that has no cure. Your child’s healthcare providers will work to prevent deformities or keep them to a minimum. They will also work to help your child make the most of his or her abilities. You can help your child strengthen his or her self-esteem and be as independent as possible. Physical and occupational rehabilitation, plus extra support in school, can help a child function as well as possible.
The full extent of a neurocutaneous syndrome is usually not completely known right after birth. It can become clearer as a child grows and develops.
When should I call my child’s healthcare provider?
Call the healthcare provider if your child has:
- Symptoms that don’t get better, or get worse
- New symptoms
Key points about neurocutaneous syndromes in children
- Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones.
- The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.
- Each disorder has different symptoms. The most common disorders in children cause skin growths.
- The 3 most common types of neurocutaneous syndromes are tuberous sclerosis (TS), neurofibromatosis (NF), and Sturge-Weber disease.
- These diseases are all present at birth (congenital). They are caused by gene changes.
- A neurocutaneous syndrome is a lifelong condition that has no cure. In some cases, surgery may be done to remove tumors that may be cancer or for cosmetic reasons.
Next steps
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.
Neuromuscular disorders
CNS malformations
Central nervous system malformations
§Corpus callosum agenesis
§Agyria (comepletely absent), pachygyria (less) , lissencephaly (smooth gyri pattern)
§Schizencephaly (less)
§Holoprosencephaly (two hemispheres not seperate)
- CT or MRI is tool for diagnosis
Inborn errors of metabolism
- PKU is commonest amino acid defect
- galactosemia is commonest carb defect
Red flags suggestive of inborn errors of metabolism
§Family history of IEM or developmental disorder or unexplained neonatal or sudden infant death
§Consanguinity
§Intrauterine growth retardation
§Failure to thrive
§Microcepahly/Hydrocephalus
§Recurrent episodes of vomiting, ataxia, seizures, lethargy, coma
Congenital hypothyroidism
- screened universally postnatally as gut3 test?
Features of congenital rubella syndrome
- IUGR, rashes, hepatosplenomegaly
- Microcephaly
- CHD- PDA
- Cataract
- Deafness
- Now not common – due to rubella vaccination
CAUSES OF DD - Perinatal (upto 55%)
Perinatal insults
§hypoxia/asphyxia -hypoxic ischaemic encephalopathy
§birth trauma - ICH
§prematurity
§hypoglycaemia
§hyperbilirubinaemia - kernicterus
§neonatal meningitis
CAUSES OF DD- post natal
- upto 3 years developing brain
Early recongition & diagnosis
§Surveillance, screening and assessment
normal and at risk groups
§
§physical stigmata / dysmorphic features at birth or later
§
§Appropriate investigations to confirm
Investigation - should be focused at what you suspect at the end of history and examination
§T3, T4, TSH (hypothyroidism)
§TORCH screen (congenital infection)
§Chromosomal microarray (genetic disorders)
§Karyotyping - autosomal disorders
§Urine aminoacid chromatography - inborn errors of metabolism
§Urine organic acids screen - inborn errors of metabolism
§Blood Amino acids and organic acids screen - inborn errors of metabolism
§US /CT/MRI brain - structural brain defects
§EEG - associated seizures
§Creatinine kinase - muscular dystropies
§Serum Copper - ID (wilson's disease?)
§Blood Ca William syndrome
All children with developtmental delay and related disorders sould have a formal assessement of
vision - opthalmologist
hearing - audiologist
ALGORITHM FOR DD
MANAGEMENT
§Information to parents
§breaking the news
§parental support/ counseling
§genetic counselling
§Multidisciplinary team assessment and services
Assessment and management
Best carried out in a Resource Centre /Community Team
By Multi Disciplinary Team
physiotherapist + speech therapisy + occupational therapist = most important
- ragama rehabiition unit
- Chi school for special needs children and resource
- LRH rehabilition unit
- digana rehabiltion unit
RESOURCE CENTER AND COMMUNITY LEVEL!!!!!!
§Specific therapy Eg Hypothyroidsm – Thyroxin
PKU – phenyl alanine free milk
§
§Educational needs- Detail assessment by an educational psychologist
– Normal school with special class
– Special school ( chitrewhofhu
Prevention of developmental delay
§Improved maternal and neonatal care - birth asphyxia!
§Proper management of hyperbilirubinaemia / kernicterus - logam RH incompability stuff + triple photottherapy + exhange transfusion
§Rubella vaccination - elimiated congenitial rubella sydromee
§Newborn screening – Guthrie test ( Hypothyrodism / Phenylketonuria / Galactocaemia etc..)
§Immunization – Hib/JE - reduced incidence of HI menignities and viral encephalitis
§Prenatal D in selected groups eg. Down syndrome
§ Amniocentesis
§ Chronic villi biopsy
Therapeutic abortions are legalised in other countries!!
Summary
§Significant delay in at least two developmental domains considered Global Development Delay
§Early identification is important to initiate treatment and therapy
§Perinatal insults such as Birth asphyxia, preterm, hypoglycaemia are neonatal meningitis are important aetiologies of GDD
§Genetic causes include chromosomal defects such as Down Syndrome , Fragile X etc
§Need to select appropriate investigations based on tentative diagnosis
§MDT assessment and Therapy need to be initiated early
§Prevention measurers should be strengthened