HD023

What is normal growth in the first few weeks of life?

Most common causes of weight loss in a newborn?

SIDS (Sudden Infant Death Syndrome)

A baby may lose up to 10% of his/her birth weight in the first week of life and should be back up to birth weight by two weeks of age.  A rough guideline for weight gain in the first month or so is 20-30 gms per day.  After that the baby should follow the growth curve upon which he/she has been established

Most common = Feeding problem   

Breastfeeding - poor latch, delayed milk supply etc.

Formula feeding - mixing the formula inappropriately and therefore delivering inadequate calories to the baby

Prevention:

1. Position the infant on the back for sleep; every sleep
2. Breastfeed
3. Keep the child comfortable but not over bundled, before and after bath.
4. Smoke-free environment. 
5. Discourage co-bedding, but have the baby sleep in the same room.
6. Sleep in a crib or bassinet meeting Canadian standards

HD023

What would be the significance of cessation of linear growth in an infant between four and six months?

Which additional nutrients are required by a breast feeding six month old infant? After?

What are the milestones before the age of 1?

This generally reflects an endocrine or inherited skeletal disorder. Linear growth is preserved for most medical illnesses and feeding problems

Until six months, Vitamin D is the only necessary supplement

400 I.U. /d

800 I.U./day in northern communities

After six months additional source of protein, calories and iron are needed. First solid should be high in iron:

Strained meat
Iron fortified infant cereal

• Developmental milestones - smiling/follow past midline (two months)
• Break asymmetric posturing, follow 180 degrees, sitting well with support (four months)
• Sits alone (six months)
• Transfers objects hand to hand (seven months)
• Stranger anxiety (six plus months)
• Pulls to stand (ten months)
• Crawling (nine-ten months)
• Cruising/walking and Pincer grasp well developed by a year (11-15 months)

HD022

6 Principles of Development in infancy (1st year)

Areas of development in Infancy (5)

Dev is a continuous process:

1. Sequence of dev is same in every child, but rates differ
2. Dev in one area does not necessarily run parallel to that in another
3. Dev is intimately related to the maturation of the NS
4. Dev occurs in a cephalocaudal (head-down direction)
5. Certain primitive reflexes must be lost before corresponding movement is aquired
6. Dev is greatly affected by the env.

1. Gross motor development
Three processes enable the infant to eventually gain upright posture and the ability to move the limbs across the midline of the body:

1. Balance of flexor and extensor tone.
2. Loss of primitive neurological reflexes. This allows the infant to bring hands to the midline.
3. Evolution of protective and equilibrium (balancing) reflexes in order to sit and walk.

2. Fine motor development
3. Cognitive development  
Requires the opportunity for manipulation and exploration that is neither too easy nor too difficult

4. Language development
5. Social-emotional development
Sequential social-emotional and interaction patterns are based on how infants form relationships and interact with their caregivers.

Bonding: occurs shortly after birth and reflects the feeling parents have toward the new baby (unidirectional).

Attachment: describes the special reciprocal feelings that develop over time between children and their caregivers. The goal of this is to maintain the child’s internal security. The creation of a secure relationship of attachment requires the consistent availability of adults who are affectionate and responsive to the child’s physical and emotional needs. This attachment is crucial to optimum development.

HD022

Developmental markers at 4, 7 and 11 months

(in class film)

Aspects of an infants Temperment (9)

4 Months

• The neonatal reflexes are disappearing
• particularly the asymmetric tonic neck reflex and the Moro reflex 
• There has been a change from the newborn asymmetric posture to symmetrical posturing with the head in the midline, opening of hands, and hands meeting in the midline.
• The infant rolls from front to back
• The child fixes on objects and follows 180 degrees 
• Hearing is determined by startle or quieting to sound
• Reach and grasp begin
• Vocalizations to people occur
• No stranger anxiety

7 Months

• Good trunk and head control, can sit, and support his weight in standing
• One hand approach to reach for objects, can transfer objects from one hand to the other and can handle more than one object at a time. 
• His grasp has improved to a radial palmar grasp
• He babbles: uses polysyllabic vowel sounds socially and emerging consonant sounds to communicate. 
• Separation anxiety or protest appears, indicating that the child has formed an attachment to his caregiver and absence causes anxiety.

10 - 11 Months

• The child now sits well, crawls, pulls to stand and may cruise. 
• pincer grasps present
• He has developed visual memory for unseen objects (object permanence).
• Language development progresses to vowel consonant combinations: "da da" and "ma ma" and the beginning of true words

1. Activity level
2. Rhythmicity (regularity).  The predictability in time of any function, e.g. sleep-wake cycle, hunger.
3. Approach and withdrawal.  The nature of the initial response to a new stimulus, e.g. new food, new toy, new person.
4. Adaptability
5. Sensory threshold (level of stimulation that is necessary to evoke a discernable response.
6. Intensity of reaction
7. Quality of mood
8. Distractibility
9. Attention span and persistence

HD024

Neuromotor Dev: Gross and Fine Motor Skills
Age 2
Age 3
Age 4

Age 5

Age 2

Gross Motor Skills

-  Runs and climbs well.
-  Goes up and down stairs (one step at a time)      
-  Kicks ball
Fine Motor Skills

-  Builds tower of 6 cubes
-  Imitates vertical and circular crayon stroke
-  Turns book pages singly

Age 3

Gross Motor Skills

-  Goes up stairs (alternating feet)
-  Jumps from bottom step.
-  Pedals tricycle.
-  Stands on one foot momentarily.

Fine Motor Skills

-  Copies circle.
-  Builds tower of nine cubes

Age 4

Gross Motor Skills

-  Hops on one foot
-  Goes down stairs (alternating feet)
-  Stands on one foot for five seconds
-  Throws ball overhand
Fine Motor Skills

-  Copies cross.
-  Draws a person with 2 – 4 parts.
-  Uses scissors.

Age 5

Gross Motor Skills

-  Stands on one foot for 10 seconds
-  May be able to skip
Fine Motor Skills

-  Copies triangle
-  Draws person with body
-  Prints some letters

HD024

Language Development

Age 2
Age 3
Age 4

Age 5

Age 2:
Comprehension

Follows single commands, ID body parts, points to common objects

Expression

50+ words

Uses 2 – 3 word sentences
Intelligible to strangers at least 25% of the time.

Age 3:
Comprehension

Knows functions of common objects, Understands prepositions – in, on, under
Expression 

Vocabulary 250+ words

3 – 4 word sentences

Uses plurals, pronouns
Can count 3 objects
90% of utterances are grammatically correct.
Intelligible to strangers 75% of time

Age 4:
Comprehension - Follows two part commands
Expression 

4 – 5 word sentences.
Uses past tense.
Can tell a story
Names some colors
Can count at least 4 objects.
Speech - Some dysfluency (stuttering) normal

Age 5:
Comprehension

Recalls parts of a story
Understands number concepts 3, 4, 5, 6
Follows three part commands
Expression

Sentences of 5 or more words
Uses future tense
Knows 4 colors
Can count 10 or more objects
Speech - Dysfluencies resolved

HD024

 Evolution of play in children

Piaget - Stage Theory of Development

HD025

What are Ex's Disruptive Behavior Disorders?

Age 2 - Mostly parallel play.
Age 3 - Understands turn-taking.
Age 4 - Cooperates with other children.

• Preschoolers are in the preoperational period
• Cognitively egocentric and believe world is organized around them
• Objects are viewed as having a life (animism)
• They reason transductively → assume a causal link or a permanent association when two events are experienced in close proximity

Easy tut, read it over

1. Oppositional Defiant Disorder
2. Conduct Disorder
3. Attention Deficit Hyperactivity Disorder
4. Attachment Disorder

HD026

Attachment Disorder (table)

HD026

What is RAD?

What causes RAD?

Reactive Attachment Disorder defined as:

Markedly disturbed and developmentally inappropriate social relatedness beginning before age 5. Noted by:

(a) persistent failure to initiate or respond in developmentally appropriate fashion to most social interactions, manifested by excessively inhibited, hyper vigilant, or highly ambivalent and contradictory responses
(b) diffuse attachments as manifested by indiscriminate sociability with marked inability to exhibit appropriate selective attachments

Inhibited type is A1 dominant feature
Disinhibited type is A2 dominant feature

Note: This can’t be accounted for by developmental delay (MR) or PDD

Several different factors with critical period from conception to twenty six months of age
Factors:

• Maternal ambivalence toward pregnancy
• Traumatic experiences
• Frequent moves or placements (foster care failed adoptions)
• Sudden separation from primary caregiver
• Abuse and neglect
• Undiagnosed and/or painful illness (ear infections, colic)
• Inconsistent day care
• Unprepared caregiver with poor parenting skills

HD026

RAD in infants

RAD in adults

• Weak crying response
• They learn it doesn’t work
• Extreme resistance to cuddling
• Poor sucking response
• No reciprocal smile response
• Failure to respond with recognition to primary caregiver
• Delay in developmental milestones

• Superficially engaging and charming
• Indiscriminately affectionate
• Destruction of self, others, or things
• No eye contact, avoids physical contact
• Cruelty to animals or siblings
• Poor peer relationships
• Inappropriately demanding and clingy
• Hypervigilant
• Stealing or lying
• No conscience or remorse
• Poor impulse control
• Persistent nonsense questions
• Hoarding or gorging on food
• Preoccupation with fire, blood, or gore
• Abnormal speech patterns

RAD can look like Oppositional Defiant Disorder or Conduct Disorder but distinguishing feature of RAD is early disruptions in attachment

HD026

Oppositional Defiant Disorder (ODD) &
Conduct Disorder (CD)

Exist on a Hierarchy, you cannot have both CD and ODD. CD trumps ODD

Oppositional Defiant Disorder:

Recurrent pattern of negativistic, hostile, and defiant behavior lasting at least 6 months during which 4 of 8 are present:

1. Loses temper
2. Argues with adults
3. Actively defies or refuses to comply with rules
4. Deliberately annoys people
5. Blames others for his/her mistakes & behavior
6. Touchy or easily annoyed by others
7. Angry and resentful
8. Spiteful and vindictive

Conduct Disorder:

Repetitive and persistent pattern of behavior in which the basic rights of others or major societal norms are violated, as manifested by the presence of 3 of 15

• Rule violations (3 – school truancy, running away, staying out late at night)
• Lying/theft (3 – B&E, lying, theft)
• Aggression to people/animals (7 – bullies, fights, uses weapon, cruel to people/animals, mugging, forces sexual activity)
• Destruction of property (2 – fire-setting or other property damage)

HD026

Kohlberg & Moral Development

Level 1 (Pre-Conventional)

1. Obedience and punishment orientation (How can I avoid punishment?)
2. Self-interest orientation (What's in it for me?)

Level 2 (Conventional)  - No law breaking is ever ok

3. Interpersonal accord and conformity
(Social norms and the good boy/girl attitude) 
4. Authority and social-order maintaining orientation
(Law and order morality)

Level 3 (Post-Conventional)  - some things ok under special circumstances

5. Social contract orientation
6. Universal ethical principles (Principled conscience)

HD026

Comparing ODD & CD

Factors involved in ODD & CD (Negative and Protective)

ODD
Prevalence: 2-16%
Prognosis: Relatively benign, better prognosis

CD
Prevalence: 6-16% (males), 2-9% (females)
Prognosis: poorer, may progress to criminal behavior and antisocial personality disorder

Biological: neurochemical and structural abnormalities

Serotonin: Decreased 5 HIAA (breakdown product of serotonin) linked to aggression
Prolactin: Developmental variation between aggressive and non-aggressive children
Cortisol: Low salivary levels associated with CD and antisocial PD
Testosterone: ↑ levels associated with aggression (eg. XYY syndrome)

Psychological Factors:

Temperment, intelligence, social withdrawal, risk taking, parent/child relations

Social Factors:

Antisocial peers/gang involvement, Antisocial parents/siblings

Protective Factors:

1. Female gender
2. High intelligence, positive social orientation
3. Resilient temperament & good coping skills
4. Competence at a skill
5. Anxiety
6. Warm supportive adult relationships
7. Individual and family commitment to social values
8. Recognition for involvement in positive extracurricular activities

HD027

Ear Diagram

HD027

Semantics vs Pragmatics

Wernicke's area vs Broca's area

Communication Milestones (0-4yrs)

Semantics – meaning of a word
Pragmatics – social use of language (problem in autism)

Wernicke's area - involved in the understanding of written and spoken language

Broca's area - production of language

0-4 Months

Vowel Sounds

Attends to voice

Responds to sounds

6 Months

Complex Vowel sounds

Localizes sounds

Consonants emerge

6-12 Months

Mama/Dada

Babbles Socially

Jargon near 1 year mark

12-18 Months

Single words

Points

Understands simple directions

18-24 Months

Vocab bursts

2-3 word combos

2-3 Years

Sentences emerge

Follow 2 step commands

50% intelligable

3-4 Years

Descriptive speech

Asks Qs

>75% intelligable

HD027

Indications of concern in language Dev (milestones)

Causes of Speech and Language Delay (7)

No response to sound (at any age)

6-9 Months - Lack of drive to communicate

12 Months - No Mama/Dada

18 Months - No single words

24 Months - Limited vocab, no word combos

36 Months - No sentences

1. Hearing loss
2. Dev Delay/Intellectual disability
3. Autistic disorder
4. Neurological problems
5. Anatomical problems
6. Deprivation and Neglect
7. Specific Language Impairment

HD027

Diagram of Hearing Impairment

HD027

RFs for neonatal Hearing Loss

Key Developmental Principles from Deloian & Murphy

1. Genetic - 50% of SNHL are genetic, most commonly autosomal recessive. 30% have a mutation in the Connexin 26 gene, which is important in cochlear cell function.               
2. Anatomic  -  Craniofacial (treacher collins syndrome, waardenburg syndrom)

3. Infections

-  In utero infections: rubella, CMV, toxoplasmosis
- Also Meningitis
4. “Sick” Neonate

• Development is orderly and sequential
• Developmental abilities become increasingly organized, integrated, and differentiated

HD030

Middle Childhood (Latency) Stage

• Stage for 5-6 to 11-12 years
• “Age of industriousness” according to Erickson because development is focused on mastery of skills and achievement
• “learning how to” and “getting good at” are central themes

Areas of Development

• Physical
• Gross and Fine Motor skills
• Cognitive / Intellectual
• Language and communication
• Adaptive functioning
• Social and Emotional

Entering this stage child . . .

• is physically capable
• Language is structurally complete
• is able to cognitively de-centre
• knows his place in the circle of life and in the family
• Child has emotional self -control

 Success is felt when...

• Experiencing success or mastery at something
• Development of a sense of competence
• Feeling valued by at least one someone
• Experience of positive social comparison

Common problems in this stage: learning disabilities, ADHD, IQ, Aggression (impulse control), Depression, anxiety (internalization), Conduct disorders

HD030

Intellectual Development in Middle Childhood (Latency) Stage

Piaget’s “Concrete operational stage”

• A shift from action (sensorimotor stage) to thought (concrete operations stage)
• Precursor to the Formal Operations Stage, where abstract/hypothetical reasoning is possible

• Ability to reason with real objects, and symbols for them, but not yet with abstract ideas
• Language now useful as a thinking tool as well as a communication tool
• Ability to de-centre allows different points of view
• Things can be looked at or categorized in different ways
• People can be categorized also

There is...

• Creativity, imagination, and “making plans”
• Meta-cognition
• Thinking about own health/health of others, including worries about what might be wrong
• Assumptions may be wrong and may surprise you
• Development of “theory of mind”

HD030

Emotional Development in Middle Childhood (Latency) Stage

Social Development in Middle Childhood (Latency) Stage

• Drives not truly latent but emotions are better controlled
• Delay of gratification and control of impulses are possible in part because of cognitive ability to hypothesize and plan (Self Control)
• Development of a true superego also supports self-control (ie Developing Conscience)
• Inflexible morality: the fact of the rule is more important than the reason for the rule

• The capacity for true empathy develops, in part due to de-centering, in part due to superego development
• True reciprocal friendships develop
• Genuine cooperative play, “teamwork”
• Shift of social focus from the family to the peer group

HD031

Autism Spectrum Disorder Overview

3 criteria:
Social interaction (no eye contact or seeking to share enjoyment)

• Interest in and responsivity to other people
• Affective exchanges
• Eye contact
• Showing things, sharing interests
• Imitation
• Pretending
• Peer relationships

Communicative impairment

•   Speech 
•   Gestures
•   Reciprocity, turning-taking, conversation
•   Unusual language

Repetitive type interests and behaviours (complex whole body movements or persistent preoccupation with parts of objects)

•   Insistence on sameness/routines
•   Non-functional rituals/self stim
•   Unusual motor behaviour: spinning,flapping,SIB
•   Odd object and toy use

Symptoms of impairment in at least one area occur before the age of 3 (Aspergers after 3)

Facts:

Male to female ratio = 4:1
Underlying brain dysfunction

HD031

Sensory Modulation Abnormalities with ASD

ID of ASD

Early Symptoms of ASD

1. Tactile hypersensitivity
2. Hyperaccusis - over-sensitivity to certain frequency ranges of sound
3. Appearing deaf
4. Unawareness of danger
5. High pain threshold
6. High anxiety

Minimum 9-12 months of normal development (normally 18) followed by loss of skills or regression

• Course of regression typically gradual
• Loss of both communication and social behaviour in vast majority
• Delayed onset of language usually first parent      concern but abnormalities in social development exist much earlier

Failure to...

• Attend to human voice
• Look at face & eyes of others
• Orient to name
• Use/respond to pointing/showing gestures
• Demonstrate interest in other children
• Imitate

HD031

ASD Comorbidity   

Checklist for Autism in Toddlers (CHAT)

1. Seizures
2. Genetic Disorders eg. Fra X, Williams Syndrome, etc
3. ADHD in 50-80%
4. Anxiety Disorders in 50%

Developed for routine use at 18-month visit:
9 questions to ask parents

• inquire about activities (climbing, enjoy being swung, playing peek-a-boo & hide ‘n seek, pretend play)
• social behaviour (interest in peers, showing interest, points at things, shows you something)

5 interactions with child – eye contact, joint attention, pretend play, point/shouting, facial expressivity, build a tower

CHAT-MB - Focuses on social interactions for "difficult to diagnose"

HD031

Asperger's Disorder

Symptoms:
social repetitions/routines
later diagnosis – high social drive, social perceptual deficit
onset after 36 months

Asperger’s preschool screening tool
1. Ask questions – inquire about social behaviour,

memory, poor problem solving/common sense, excessive needs to routines, physicals (hands flapping, uncoordinated)
2. Observe Interactions – flat emotionality/difficult to read, odd voice, preoccupation, hands flapping, attachment to facts, not listening to others

HD031

ADHD General Stats

• ~8% of school age children with ~50% persistence into adulthood2
• 4.4% of adults meet full criteria for persistent childhood-onset ADHD with significant impairment and comorbidity

Children with ADHD are...

• 3x more likely to repeat a grade/fail to complete HS
• More impulsive -> early sexual age (pregnancy/STIs)
• More likely to have been arrested and incarcerated and have higher rates of substance abuse disorders.
• More likeky to be fired from a job and/or change jobs more often
• Increased rates of accidents, motor vehicle crashes and injuries during adolescence or adulthood
• More likely to smoke Pot

HD031

Diagnostic criteria for ADHD

3 subtypes of ADHD

• Inattention:
• Makes careless mistakes 
• Short attention span
• Does not listen when spoken to
• Fails to finish
• Difficulty initiating
• Loses things                         
• Easily distracted
• Forgetful
• Hyperactivity
• Fidgets, squirms, leaves seat
• Runs, climbs
• Noisy, talks excessively
• “on the go”, “driven by a motor”
• Impulsivity
• Blurts out answers                     
• Difficulty awaiting turn
• Interrupts or intrudes on others
• Tantrums if controlled or stopped
• Onset before age of 7 years
• Co comorbidity – social insensitivity, executive function deficit, learning disorder

1. Predominantly inattentive type (35%)

• shyness, passive/anxious, daydreaming, poor in sports, unpopular, infrequent conduct disorder
• low self-esteem/avoidance/performance, anxiety, temper outbursts, fragile ego, mood lability, academic underachievement, social skill deficits
• compensatory – ex. perfectionism, competitiveness

2. Predominantly hyperactive-impulsive type
3. Combined type (> 50%)

HD031

Additional ADHD symptoms unresponsive to meds

The cycle of ADHD

Associated features with ADHD

• Comorbid social insecurity
• Comorbid Learning Difficulties (Math, writing...)
• Comorbid executive function deficits in 33% (initiating, monitering, set shifting, planning/org, memory)

Neuropsych deficits -> Family/social/academic failures -> Frustration/low self esteem/performance anxiety -> Behaviour problems, substance abuse, depression, personality disorders,

1. Low self-esteem->Avoidance/Performance Anxiety
2. Easily hurt / fragile ego
3. Mood: Unhappiness, Temper outbursts

HD031

Possible aetiological factors of ADHD

How are Dopamine and Noradrenaline involved?

Various neurological deviations in ADHD

• Hypofrontality in ADHD (hyperactive adolescents showed lower activation in the prefrontal systems (prefrontal cortex and left  caudate))
• ↑ dopamine transporter density (70% increase in  dopamine transporter density in patients with ADHD compared to healthy controls)

Genetic

• Dopamine Transporter Gene (DAT1 on chromo 5)
• Short allele is assoc’d with MPH response
• Dopamine Receptor Gene (DRD4 on chromo 11)
• Association with “novelty-seeking”

Dopamine:

• Enhances signal
• Improves attention
• Focus
• On-task behavior
• On-task cognition

Most relevant to ADHD is the mesocortical DA pathway. It is important for mediating:

• attention, arousal, concentration, and other cognitive functions such as verbal fluency, focus, serial learning, executive functioning, sustaining and focusing attention, prioritizing behavior, and modulating behavior based on social cues
• Therapeutic doses of stimulant medications are hypothesized to increase postsynaptic DA effects and promote the integration of relevant inputs from other cortical regions

Noradrenalin:

• Dampens noise
• Executive operations
• Increases inhibition

HD031

Right Prefrontal Cortex     

Caudate Nucleus and Globus Pallidus

Cerebellar Vermis

Treatment/Intervention for ADHD

Right Prefrontal Cortex     

• Involved in editing one’s  behaviour, resisting distractions and developing an awareness of  self and time

Caudate Nucleus and Globus Pallidus

• Helps to switch off automatic responses to allow more careful deliberation by the cortex
• Coordinates neurological input among various regions of the  cortex   

Cerebellar Vermis

• Possibly involved in regulating motivation

Standardized assessment tools

• SNAP-IV (Swanson, Nolan and Pelham IV)
• 18 items relating to ADHD, 8 items relating to Oppositional Defiant Disorder (ODD)
  Items rated from 0=not at all to 3=very much
• Connors, ADHD-RS-IV, WFIRS

3 uses of these:

1. Baseline (↑diagnostic precision)
2. Repeat (measure response to pharmacotherapy),
3. Determining remission (what’s normal?)

Effective multi-modal treatment

• Main therapy is methylphenidate (Ritalin)
• But also behavioural modification, modified learning environment, support

HD032

What are Developmental Disabilities?

Global Developmental Delay

a group of related chronic disorders of early onset estimated to affect 5-10% of children

The range of prevalence of various developmental disabilities includes:

• Speech and language impairment 6%
• Attention deficit/hyperactivity disorder (ADHD) 7%
• FASD 1-3%
• Intellectual disability 1-2%
• Autism spectrum disorders 0.5%
• Cerebral palsy 0.2%

Subset of developmental disabilities that show a significant delay in 2 or more of the following developmental domains:

• Gross motor
• Fine motor
  Speech/language
• Cognition
• social/personal
• Activities of daily living (ADL)

Note: They may not have MR in the future (ex. children with cerebral palsy may have a neuromuscular disorder but no MR)

HD032

AAIDD Def'n of Intellectual Disability

On Mental Retardation

a disability characterized by significant limitations both in intellectual functioning (IQ 2 stndrd dev below mean) and in adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18

Levels:

Mild  51-75           
Severe <50

Assign levels of support – intermittent, limited, extensive, pervasive

MR is defined as including at least two of the following impairments:

• Communication
• Self-care
• Home living
• Social/interpersonal skills
• Use of community resources
• Self-direction
• Functional academic skills
• Work, leisure, health, safety

HD032

 DSM IV Diagnostic Criteria for Intellectual Disability/Mental Retardation and Levels

Prevalence of MR

• Significantly subaverage intellectual functioning -- IQ <70 (DSM-IV)
• concurrent deficits or impairments in adaptive functioning
• onset before 18 years

Mild MR                 IQ 55 -- 70       
Moderate MR          IQ 40 -- 54       
Severe MR             IQ 25 -- 39       
Profound MR          IQ below 25

• mild MR:  0.8-1.2%
• severe MR:  0.3-0.5%
• Prevalence inc from the preschool years (0-4) to middle childhood (5-12)
• May be an apparent increase in mid-teen years
• Decrease in young adulthood and elderly
• Life Expectancy low = 20 (even lower with profound and severe MR)

HD032

Co-morbidities of MR

MR - Aetiology

RFs for MR

• 15X rate of visual disability
• 10X rate of hearing impairment
• speech and language disorders
• seizure disorders
• cerebral palsy

80 % of severe MR have organic cause (40 % with mild MR)

Prenatal causes: higher in ♂ (X-linked)

• Chromosomal disorders, syndrome disorders, inborn errors of metabolism, developmental disorders of brain formation, environmental influences
• Syndromes – Down, fragile X, fetal alcohol, Williams, Rett, Angelman, Noonan, Velocardiofacial

Perinatal causes: intrauterine disorders, neonatal disorders
Postnatal causes: trauma (shaken baby), infections (menigitis), demyelinating disorders, degenerative disorders, seizure disorders, toxic metabolic disorders (ex. Reye syndrome, lead, mercury), malnutrition, environmental disorders

Pre/perinatal exposure

• infection, maternal nutrition, teratogens, toxins, trauma, seizures
• characteristics of fetus – abnormal fetal movement of presentation, abnormal head circumference, congenital anomalies, malformations or dysmorphic features, low birth weight or growth retardation, placental dysfunction

Postnatal events

• Complications, prematurity, toxin
• Characteristics – abnormal sleep pattern, abnormal suck/feeding skills, acting as if deaf, delay, dissociation, or deviance in acquisition of milestones, hypo/hyperactivity, suspects delay or retardation

HD032

Disgnosis of MR

Red Flags for MR

Clinical: MR or not MR in 3 Steps

1. Cognitive & adaptive skills -- standardized tests
2. Strengths and needs
3. supports and services

Commonest presentation of DD is language delay

Age at presentation of MR is usually inversely proportional to severity

Etiological: 4 Steps

1. Hx and Px (20-35% yield)
2. Hearing, vision, language, ASD
3. Labs (Xms, FraX, MRI, metabolic)
4. Genetics consult

1. Failure to turn to voice by 6 months
2. Failure to babble
3. Failure to point to request or comment by 18 months
4. Failure to follow a simple command without a gesture by  18 months
5. Failure to use 2 word phrases by 26 months
6. Failure to speak in 3 word sentences by 36 months
7. Unintelligible speech in a child older than 36 months
8. Regression in language skills at any age

HD032

Testing for MR

History taking of MR

Physical and Neuro exam

Fist Line and Second Line Investigations

Cognitive testing
infant developmental testing
Preschool tests (eg.Weschler scales -- WPPSI)
School age tests (eg.Weschler scales -- WISC)
Adaptive testing
Vineland Adaptive Behaviour Scales
Adaptive Behavior Assessment Scales ABAS

Take a family Hx (3 generation pedigree) including:

• learning problems
• psychiatric disorders
• autism, MR in relatives
• consanguinity
• nonspecific developmental problems

Physical exam needs to be complete:

• Growth parameters
• Occipitofrontal circumference of child and parents, measured and plotted
• Skin for neurocutaneous stigmata
• Neurologic exam
• Spine, reflexes, tone, gait
• Systems exam
• Visual examination (may need ophthalmologist)
• Audiologic examination
• Cardiac exam for congenital abnormalities
• Abdominal exam for visceromegaly
• Behavioural phenotype

First Line: Chromosomes (Fragile X)

Second line: MRI, EEG, Metabolic studies...

HD032

Prognosis Mild MR

Prognosis Moderate MR

Prognosis Severe MR

Prognosis Profound MR

• Learns at 1/2 to 2/3 normal velocity
• Adult reading at 3rd to 6th grade level
• Vocational/technical track in HS
• Usually lives independently, often marries, may parent children

• Learns at 1/3-1/2 normal velocity
• Adult reading at 1st - 3rd grade level
• Vocational or life skills track in HS with formal
• Teaching of ADL skills
• Lives in supervised group home
• Rarely marries or parents children

• Learns at 1/4 to 1/3 normal velocity
• Survival sight reading (stop, exit, etc)
• Life skills classes in HS
• Assistance with ADLs
• Highly supervised group home living depending on co-morbidity
• Does not marry or parent children

• Learning at less than 1/4 normal velocity
• No reading skills
• Life skills/custodial care
• Needs pervasive assistance in ADLs

HD032

Common Syndromes associated with Intellectual Disability

Three most common developmental variations in children

1. Down syndrome
2. Fragile X syndrome
3. Fetal Alcohol Syndrome
4. Velocardiofacial syndrome
5. Williams syndrome
6. Rett Syndrome
7. Angelman Syndrome

1. Interactive
2. Cognitive
3. Motor

• Motor Impairment Is Dysfunction of Normal Movement -> Impairment ≠ Disability
  
  Disability is not inherent to the person
  
  

HD039

Motor Impairment Is Caused by... (2 main types)

Normal Motor Dev occurs in...

Central Nervous System damage:

• Cerebral Palsy
• Non-progressive condition caused by damage to developing brain that results in abnormalities of motor function & tone (spasticity or hypotonia)
• Spina Bifida (most common Neural Tube Defect)
• Separation of the bones in the spinal column
• Often associated with meningomyelocoele (fluid filled sac that protrudes from the spine)
• Nerves below the defect may fail to develop → paralysis, lack of sensation
• Spinal Muscular Atrophy
• Degeneration of nerve cells in the spinal cord → weakness & poor motor control -> death by resp failure
• Trauma

Muscular problems:

• Muscular dystrophies and myopathies
• Weakness is related to the damage in the muscles themselves

An ordered sequence, starts with head stability, then trunk stability and progresses on and on. But, if motor impairments occur this may negatively impact on cognitive development & independence, as many developmental tasks are learned by exploring & interacting with the environment

HD039

Associated Impairments with Motor Impairment

Predictors of Mobility

• Cognition more common with cerebral palsy (compared to spina bifida, myopathies)
• Special senses sight, hearing
• Seizures
• Hydrocephalus poor fluid exit from brain → fluid accumulates in the head primarily in children with spina bifida
• Speaking, feeding, swallowing
• Musculoskeletal deformities (esp. hips & spine)
• Respiratory problems
• Can result in over-dependence, low self-esteem
• ↑intelligence → ↑difficulty of adjustment, but ↑motivation, ↑peer learning

• Sitting by age 2 → good prognosis
• spina bifida – lesion close to the bottom → ↑ prognosis for ambulation
• may require braces, crutches; some may require wheelchair

HD042

Gonadarche

Adrenarche

Thelarche

Menarche

Gonadarche: Onset of genital maturation due to reactivation of the hypothalamic-pituitary-gonadal axis

     50-70-% of puberty timing is genetically determined

Adrenarche: Stimulation of adrenal cortex to produce

adrenal androgens leading to pubic and axillary hair, sebaceous gland activation (body odor, skin oil, acne)

Thelarche: Onset of breast development

Menarche: Onset of menstrual periods, ie the age of a girl’s first period

HD042

Tanner Staging:

1. Pubic Hair (Male and Female)

2. Breast (Female)

3. Genitalia (Male)

Pubic Hair (Male and Female):

Tanner 1: prepubertal – no hair that is non-normal body hair
Tanner 2: sparse growth long, slightly pigmented hair on mainly labia or base of penis
Tanner 3: darker, coarser, curlier, starting to spread over symphysis pubis
Tanner 4: coarse and curly (i.e. adult quality) but restricted to pubic area
Tanner 5: extension to thighs (females & males) and toward umbilicus (males)

Breast (Female): first clinical sign of puberty in females ***********
Tanner 1: prepubertal, elevation of papilla
Tanner 2: breast bud stage, small mound (M & M) under papilla
Tanner 3: enlargement of breast tissue surrounding areola
Tanner 4: areola and papilla form a “secondary mound” over breast -> relationship of the nipple to the breast -> non continuous w/ breast
Tanner 5: “mature female”, areola continuous with underlying breast

Genitalia (Male): first clinical signs of puberty in males is testicular enlargement
Tanner 1: prepubertal – thick skin on scrotom
Tanner 2: enlargement of scrotum and testes (>2.5 cm, or 4 ml), reddening of scrotal skin – testicles hanging more, scrotal skin is thinning
Tanner 3: further growth scrotum, testes, lengthening of penis, thinning and darkening of scrotal skin, more wrinkles
Tanner 4: further growth:  scrotum, testes, and widening of penis
Tanner 5: “mature” male

HD042

Key Timings in Puberty
1. Females

2. Males

Females:

Onset:

• typical 9 -11 years
• after 8th birthday – by 13th birthday in Caucasian females
• after 7th birthday  - by 13th birthday in African American females
• first sign is most often breast bud development (thelarche)

Peak of growth spurt:

• Tanner 3, typically 11 –12 years

Menarche:

• Most commonly a Tanner 4 event, mean age is 12.5 yrs
• Considered delayed if it has not occurred by 16 years or 5 years after thelarche

Males:

Onset:

• typical 11-12 years
• Normal Range: after 9th birthday –by 14 birthday

Peak of growth spurt:

• Tanner 4, typically 14 years

HD042

Gential Changes in Females during Puberty

Gential Changes in Males during Puberty

Gynecomastia

1. Ovarian enlargement
2. Enlargement and pigmentation of labia
3. Uterus and vagina enlarge
4. Vagina becomes more elastic
5. Vaginal microenvironment changes

1. Onset of ejaculations about 1 year after
   onset puberty
2. Production of mature sperm usually
   about one year after first ejaculation
3. Facial and body hair are late pubertal events
4. Moustache at SMR 4
5. Beard at SMR 5
6. Chest hair late teens and into 20s

Male breast development:

• Tanner 2 - 3 timing and size
• Unilateral or bilateral
• Resolves 1 - 2 years
• Very Common (50%)

HD045

“Risk Taking” Behavior in Adolescence

Mortality is Adolescence

• Voluntary behaviors engaged in by individuals which carry the possibility of a negative health outcome
• They also inherently carry some potential “positive” outcome
• Social (e.g. meeting peer approval)
• Physical (e.g. positive physical sensations)
• Psychological (e.g. self-esteem building, just plain thrilling, especially gratifying to the sensation-seeking adolescent)

We must bear in mind the developmental tasks of adolescence involving answering certain questions:

• Who Am I?
• How do I fit in with and how am I different than my family?
• How do I fit in my broader social world?

and Often the potential positive outcomes of risk-taking serve to satisfy a developmental need

Leading Causes of Mortality (Male and Female; 15-19 y.o)
1.    Unintentional injury (46%)
2.    Suicide (23%)
3.    Cancer (8%)

Females attempt more, males more lethal methods, and take a secondary jump at 20-24

HD045

Mental Health in Adolescence (2 main types)

Substance Use in Adolescence

• Anxiety disorders slightly more common than mood disorders
• anxiety 3-4%; mood 2-3%
• both diagnosed slightly more often in females than males.   
• Nonsuicidal self-injury is common occuring in about 15% of Cdn youth (approx. 3:1 F:M ratio).
• cutting, scratching and self hitting most common form, followed by drug ingestion. 
     
• Eating disorders:
• ~ 1% F for Anorexia Nervosa
• 2-4% F for Bulimia Nervosa
• F:M ratio ~9:1.
• Dieting for weight control is extremely common in adolescents (~ 50% F, 12% M)

Tobacco:
20% use but overall rates are trending down
Average age for starting tobacco use: 13 yrs

Alcohol
Most commonly used substance
55% use, average age starting 13

Marijuana:
22% MB Gr 7-12 students used in past year; 28% have ever used

Risk perception:
4% students report “there is nothing wrong with drinking and driving”
18% report “there is nothing wrong with using cannabis and driving”

HD045

Sexual Behaviour in Adolescence

Pregnancy in Adolescence

• 20-25% Grade 9s and 40-45% Grade 11s report sexual intercourse in lifetime
• Genital sexual intercourse rates have dropped slightly over past 15 yrs
• Rates of oral sex seem to be increasing
• 70% sexually active Gr 9 and <60% Gr 11 report condom use at last intercourse
• As teens age they are less likely to use condoms and more likely to use the birth control pill
• Rates of STIs are highest in 15-24 yr age groups
• HPV is most common STI overall (but not reportable infection)
• Chlamydia is commonest bacterial STI, followed by gonorrhea (~10 fold difference)

They are going down (haha didn't mean it that way)