Jean-François Lemay MD CCFP CPSQ FRCPCProfessor, Developmental PediatricianDepartment of Pediatrics, Alberta Children’s Hospital University of Calgary Faculty of Medicine, Calgary , AB

Disclosure Statement Dr Lemay has documented that he has nothing to disclose.

Objectives: June 14th 2012 The participant will learn:

The general principles of development How to recognize early patterns that are

abnormal and that may indicate a possible developmental cognitive (intellectual dis-ability) and language problem

The most important points that I want you to remember

Section I

General Principles about Developmental Issues

Important Message

Infant development occurs in an orderly and predictable manner that is determined intrinsically

Developmental Disabilities develop just as normal development does

Developmental Spheres

Motor

Speech-Language

Sensory

Cognitive

Adaptive

Social

Section II. When to Worry About Cognitive Skills and Communication in Childhood

Case presentation

4-year-old girl would speak at home and not at all in preschool Seems to be behind developmentally according to

the teacher family history of learning and speech problems history of normal birth and delivery no CNS insult/usually in good health P/E – not dysmorphic – would/did not speak – a little

anxious, appears to be socially immature – neurological exam showing low tone and decreased strength

What would you do?

Mother of the 2 kids WAIS-IV Composite Scores Summary

Scale Sum ofScaledScores

CompositeScore

PercentileRank

95%Confidence

Interval

QualitativeDescription

Verbal Comprehension 23 VCI 86 18 80-93 Low Average

Perceptual Reasoning 31 PRI 102 55 95-109 Average

Working Memory 14 WMI 82 12 76-91 Low Average

Processing Speed 16 PSI 88 21 81-98 Low Average

Full Scale 84 FSIQ 87 19 82-92 Low Average

Our patientWPPSI-III Composite Scores Summary

Scale Sum ofScaledScores

CompositeScore

PercentileRank

95%Confidence

Interval

QualitativeDescription

Verbal 12 66 1 61-75 Extremely Low

Performance 10 59 0.3 55-69 Extremely Low

Full 24 54 0.1 50-61 Extremely Low

8-yr-old sister of the patientWISC-IV Composite Scores Summary

Scale Sum ofScaledScores

CompositeScore

PercentileRank

95%Confidence

Interval

QualitativeDescription

Verbal Comprehension (VCI) 5 50 <0.1 46-61 Extremely Low

Perceptual Reasoning (PRI) 4 46 <0.1 43-60 Extremely Low

Working Memory (WMI) 2 50 <0.1 46-63 Extremely Low

Processing Speed (PSI) 11 75 5 69-86 Borderline

Full Scale (FSIQ) 22 45 <0.1 42-53 Extremely Low

The ABAS-II adaptive score showed borderline adaptive skills, and both girls had a negative ADOS.

Dysmorphology assessment demonstrated a high bridge of the nose, long/flat philtrum and an aspect of fusion of the 2nd to 4th metatarsals. Both girls also had multiple dental caries.

Terminology

Before the age of 4-5 : Global Developmental Delay (GDD) or delay in a specific domain(s)

After the age of 4-5 : Intellectual Disability (ID) or specific delay in one or more domain(s)

Terminology Global Developmental Delay: child is functioning at a level

2 SD below the child’s expected achievement for age in 2 or more of developmental categories

Isolated Developmental delay exists when a child is functioning or below in one single area.

Atypical developmental refers to any of the following: Divergence from the normal sequence of development (for

instance skipping) Loss of skills previously achieved Presence of atypical behaviours such as echolalia

Intellectual Disability: not MR! New term: formally called mental retardation

American Association on Mental Retardation has been renamed the American Association on Intellectual and Developmental Disabilities

Definition Intellectual Disability Valid assessment

Intelligence quotient: significant limitation in intellectual functioning (the IQ score is more than 2 SD below the mean for the IQ used)

Adaptive skills Significant limitation in adaptive behavior Deficits in 2 or more of the following applicable

adaptive behavioral skill areas: Communication, home living, community use, health

and safety, leisure, social skills, self-direction, functional academics, and work

Degrees of Severity of MR

DSM IV 317 Mild IQ level 50-55 to +/- 70 (70-75) 318.0 Moderate IQ level 35-40 to 50-55 318.1 Severe IQ level 20-25 to 35-40 318.2 Profound IQ level below 20 or 25

IQ/Cognitive skills (under +/- 6-7yr) Bayley (1-42 months): social-emotional and adaptive

behavior, receptive + expressive language, Fine and Gross motor + cognitive.

WPPSI-III (2-6 to 7-3yrs of age) Standardized assessment of cognitive ability. Provides a Full Scale IQ and Verbal, Performance, Processing Speed and General Language cores.

Mullen (0-68 months). Individualized assessment of cognitive ability. % independent scales including Expressive Language, Receptive Language, Visual Reception, Fine Motor and Gross Motor scales.

Child Development Inventory (not really an IQ test) – provides an overall estimate of developmental functioning through parent report from ages 0-6 years.

IQ/Cognitive skills: over 6 yr

WISC-IV (6-16 years): Standardized assessment of cognitive ability. Provides Full Scale IQ; Verbal Comprehension, Perceptual Reasoning, Working Memory, and Processing Speed index scores

WAIS-III (16 to 74-11yrs). Standardized assessment of cognitive ability. Provides Full Scale IQ; Verbal and Performance IQs; Verbal Comprehension, Perceptual Organization, Working Memory, and Processing Speed index scores

Adaptive Behaviour skills

Vineland Adaptive Behaviour Scale (Vineland II): lifespan adaptive behaviour assessment tool. Standardized interview or questionnaire format for caregivers and

teachers. Provides an Adaptive Behaviour Composite score and three domain

scores (Communication, Daily Living skills, Socialization) Adaptive Behaviour Assessment System – II (ABAS-II):

designed to measure the adaptive behaviour skills across the lifespan including Communication, Functional Academics, Self-Direction, Leisure, Social, Community Use, School Living, Health & Safety, Self-Care and Work.

Yields 3 composite scores (Conceptual, Social and Practical) and an overall adaptive functioning score, General Adaptive Functioning (GAC)

Intellectual Disability

One of the most prevalent of the developmental disabilities

There is a sense of urgency to determine the causative factor or factors

Occurring in approximately 1% school-aged children

Key components in Conveying a Diagnosis of Intellectual Disability

Attitude: With the child present, acknowledge that he/she is valued and the parents are respected.

Location: Private room with no interruptions.

Personnel: Experienced staff should convey the news.

Language: Interpreter should be present if English is not the first language.

Content: Present information in a direct, sympathetic, and understandable manner. Discuss immediate and future plans. (A follow-up consultation is advised).

Questions: Allow time for questions. Clarify any unanswered questions promptly.

Support: Provide verbal and written information about support / interest groups.

(adapted from Diggens and Lennox, 199958)

Origins ID

Hereditary disorders 5%

Early alterations of embryonic development

32%

Other pregnancy problems and perinatal morbidity

11%

Acquired childhood diseases 4%

Environmental and behavioral syndromes

18%

Unknown causes 30%

Classification of Etiology of 178 children with ID

CAUSE SEVERE %

(N = 79)

MILD %

(N = 99)

TOTAL %

(N = 178)

Pre-natal 70 51 59

Chromosomal 22 4 12

Specific Syndromes 13 12 12

Neurodegeneratvie 8 0 3

Familial MR 6 9 8

Acquired 4 5 4.5

Unspecified Syndromes 9 13 11

Brian Anomaly 9 7 8

Perinatal 4 5 4.5

Post-natal 5 1 3

Idiopathic (including cerebral palsy andpervasive developmental disorder)

22 43 34

(adapted from Stromme and Hagberg, 2003 13)

Epidemiology of Intellectual Disability Prevalence Rates

Roeleveld (1997) Mild 3.2-79.3/1000 Severe 2.8-7.3/1000

(review of 33 studies after 1963 Western industrialized countries)

Leonard (2002) Mild 10.6/1000 Severe 1.4/1000

Male to female ratio 1.6: 1 (Croen 2002) supporting the notion that an X-linked pattern of inheritance

underlies a significant proportion of cases

2011: The prevalence of ID varies depending on study design and diagnostic criteria. In the United States, ID is generally estimated to occur in approximately 1 to 1.5% of all children. The prevalence of ID is higher in boys and the majority of those with intellectual disabilities have mild ID. In contrast, the prevalence of ID in adults is significantly lower than in children.

2011: A British study that followed a single cohort from childhood into adulthood found that the prevalence of ID reached a plateau at 1.4% among individuals aged 10 to 15 years, and then sharply dropped to 0.6% at age 17 years.

Etiologic Considerations

Diverse and include many different influences malnutrition is probably the most common

cause of Mild MR/ID world wide (Churazzi 2000) probably in conjunction with socio-cultural

deprivation and other problems related to poverty

in developed countries, the underlying causes of ID are various and heterogeneous (unknown up to 66%)

ID is associated with many genetic

syndromes

Syndromes...

Fragile X most common form inherited MR (Ellaway 2001)

prevalence: 1:4000 males (1-6% of MR) folate-sensitive fragile sites Females: carry FMR1 premutation may present

with LD, emotional problems, etc. dysmorphism appears usually in adolescence Mild to Severe MR range

Syndromes associated with MR

Williams Syndrome frequency 1:10,000 deletion of 7q11.23 ‘elfin-like face’ loquacious, overfriendly, ADHD, etc.. Mild MR/low-average intelligence

Velocardiofacial syndrome prevalence: 1:5,000 typical dysmorphism Mild MR is less frequent

Syndromes associated with MR Rett syndrome

progressive X-linked dominant encephalopathy progressive course with identifiable stages severe impairment in language development and psychomotor

development are found

Prader-Willi frequency 1:16000-25000 most common syndromal cause of human obesity average IQ : +/- 70

Syndromes associated with MR

Angelman syndrome chromosome 15q11-q13 true incidence may be underestimated unusual facies characteristic behavioral pattern

Isocentric chromosome 15 most frequently reported cytogenic finding in individual with

autistic disorder

Syndromes associated with MR

FASD most common cause of MR among children in the

USA (Abel 1995)

IQs from well within the normal range to the severely mentally retarded range-on average

individuals with the full syndrome have mild MR with IQ scores in the 60s (Schaefer 1992)

Comprehensive assessment of patients with ID (Part I)

Complete medical, developmental and psychosocial history including a three generation pedigree + pre-, peri-, and post-natal history

Comprehensive Physical Examination (specifically looking for the presence of physical anomalies) + complete neurologic examination + growth measurements

Part II : Investigations

No universal approach to the etiologic work up after the completion of Part I

Karyotype (detects most chromosomal rearrangements) FISH: Fluorescent ion situ hybridization: can detect tiny

chromosomal changes particularly microdeletions (e.g., Williams syndrome)

Molecular testing DNA analysis: testing of a specific gene to detect changes or mutations (e.g., Fragile X)

Neuro Imaging: useful but ... do it when you have dysmorphic facial features, significant microcephaly, hypotonia, neurodegenerative process and an asymmetric neurological exam or seizures (r/o CNS dysgenesis)

Routine Metabolic Screening should be abandoned; it is rare! Micro-arrays

Other assessments

Neuropsychological evaluation with IQ testing

Psycho-interview to include personality style

Evaluation of language production and comprehension

Education evaluation including achievement tests

Intellectual disability: take home

messages Early identification Determination of an underlying etiology (if

possible): we have many underlying causes of intellectual disability including genetic causes, environmental factors, and prenatal and postnatal insults to the CNS, but for many the cause is unknown

There is no single diagnostic workup that is appropriate to all cases

Management of ID

Aim of pediatric management provide support to people with ID and their

families to assist them in creating personally satisfying

lives for themselves diagnose specific syndromes or treatable

conditions

ID: Benefits of Genetic Evaluation (patient)

Identification of appropriate medical and non medical therapies

Identification of indicated interventions/referrals

presymptomatic screening for associated disabilities

Education planning Eliminate unnecessary testing

Management

Most causes of ID are not treatable directly

Number of medical conditions associated with ID that are completely treatable remains small (PKU)

Key components involved in informing parents

Intellectual disability: take home

messages Being an advocate for the parent(s) or caregiver(s) and helping them to advocate rights for their child

Section III

Language

Important questions

What is communication? What is language?

Communication – What is it?

Non verbal; body language, gestures and signs

Verbal Speech: articulation, voice and fluency Language: receptive and expressive

What is language?

Language is the main way people share ideas, thoughts, emotions, and beliefs.

It is symbolic, with an agreed set of arbitrary signs or symbols.

Cries and laughter are communicative, indicating different states of being (sad, happy), but they are not language.

24-month-old male Dad speaks Hebrew and Mom speaks French Calgary relatives speak English no intelligible words yet parents feel he understands everything that is said to

him will point to what he wants or take parents by the hand to

show them what he wants very friendly with everyone he meets generally a happy child dad did not speak until 17 months old (was raised in

Israel) the rest of his development was all normal P/E—all normal

What would you do?

Clinical case : Travis was a handsome, social 26-month-old child.

According to his parents (who are family

physicians), his speech and language skills lagged far behind those of his older sister when she was that age.

His mother had discussed her concerns about Travis’ language development on several occasions with her GP colleagues.

Mother read that boys’ language develops more slowly than girls, and besides she acknowledges that his chatty sister spoke for him. Then, Travis began to tantrum in frustration if he was not understood.

Clinical case The speech-language pathologist confirmed that Travis’

expressive language skills were comparable to a child 14 months of age, although receptive skills and cognition were near age appropriate.

His hearing was rechecked despite a normal screen at birth and was found to be adequate for speech perception.

He was enrolled in a toddler communication group, 2 hours per session, two sessions per week, with a speech-language pathologist.

Slowly, Travis began to increase his vocabulary and build grammatical skills. At 36 months of age, his vocabulary was greater than 250 words, and he was speaking in short phrases.

At 48-months-old, he had residual immaturities in speech sounds, but had caught up with peers in all other domains of communication.

At age 7 years, his second grade teacher called his parents in for a conference because he still made some articulation errors and his reading skills were below age expectations.

More on language

Language, by the use of symbols in a systematic manner to convey meaning, provides people with the ability to create and understand an infinite number of messages.

Hence language is rule-governed, and these rules vary between different languages

What is speech?

Speech is distinct from language in that it refers to the articulation (pronunciation) of sounds and syllables and requires the ability to sequence them in the manner typical of the language spoken

These sounds and sound sequences also vary between languages

More on speech Speech in itself is a complex act and

involves the actions and interactions of the mouth, lips, tongue, nose, larynx, pharynx and the respiratory system.

Children can have only a speech delay or a language delay but many children demonstrate difficulties in both areas.

Language delay: the cause(s)? The precise cause of early delays in

language or speech development is not known, however….

Current research (from UK twin studies) indicates early language delays can be linked to strong

environmental influences whereas persistent delays can be linked to

strong genetic influences

Family history/gender ?

Children with persistent language delays are likely to have family histories positive for language and speech disorders.

We do know that boys develop language more slowly than girls in the preschool years although the degree of difference is actually quite small statistically.

Other info on gender/birth

We also know that boys are more likely than girls to develop speech and language disorders and hence should be followed up earlier rather than later.

Research is inconsistent with regard to the effect of birth order on language development, however….

More than one language at home… Finally being raised in a bilingual

environment generally does not slow the process of language learning.

Communication: Why worry? Between 4-7 % of preschool children have

a significant speech and/or language disorder

Children with behavior problems are 10 times more likely to have language disorders

Language disorders are the most frequent developmental problem that presents in the preschool period

Conditions to be considered in a child with Language Delay Hearing Loss Specific speech or language impairment

(SLI) Cognitive Impairment Autism (Social Communication) Syndromes/other conditions (seizures) Environment and emotional deprivation

Language problems

Autism/Anatomic/Acceptable variation

Blindness/Brain Injury

Chromosomes/CNS

Deafness/Developmental Delay

Environment/Early birth

Clinical case #2 A 2-year-old boy does not say any

recognizable words He started to walk at 15 months; No word recognizable Third child in the family Siblings’ speech development was normal Play skills appropriate with toys Parents are not concerned with social/cognitive

abilities

Key elements to obtain during the interview/observation Ask about pregnancy Birth history Early developmental Infant illnesses Ear infections Audiology? Family history of

deafness or language delay

Responding to name Pointing, etc. Failure of

comprehension? Can he follow a

command? Problem with production

of sounds? Can his parents

understand him? Able to demonstrate his

needs?

Physical examination

Growth measurements

Evaluate developmental milestones

Complete physical and neurological examination

Social interactions

Autism: Red Flags

No babbling by 12 months No gesturing by 12 months No single words by 16 months No 2-word phrases by 24 months Any loss of language/social skills

What can you do in your office? Ask about communication skills with family and

others (but do not forget to observe!)

Ask for examples of communication attempts, if any

Ask about non verbal communication attempts; -gestures

-pointing and looking

-speech sounds

For example…

Does s/he try and attract your attention? Does s/he want to show you things? Does s/he seem interested in what you’re

doing and want to copy you? Does s/he make sounds and imitate

sounds?

If a child is having language delays?

Inquire about ear infections -frequent ear infections in the first year

especially can have a significant impact on speech and language acquisition

If you can’t hear you do not learn how to speak/communicate well/Easy thing to do

First thing to rule out for a language delay: refer to Audiology

SLP referral?

Role of SLP

Assess receptive language (comprehension/understanding)

Assess expressive language (talking)

Assess phonological skills (pronunciation)

(Numerous standardized tests and checklists available)

What we want you to remember…

LANGUAGE: take home messages Children have different language

development profiles They also differ in how many words

they comprehend When to worry about a lack of

words? Avoids eye contact, rarely babbles Does not respond to whisper No interest in imitating

Signs of speech or language delay by type of disability

Language Feature Auditory Expressive Auditory

Etiology Content Intelligibility receptive Visual

Hearing Loss Variable Normal

Intellectual Disability

Developmental language disorders (DLD) Variable Normal

Autistic spectrum disorders (ASD) +/-

Dysarthria +/- Normal Normal

Causes of delayed speech or language

Prevalence

Etiology (per 1,000)

Hearing loss ?

Permanent, mild to moderate 10

Intermittent, mild to moderate otitis media (OME) *

Mental retardation (MR) 30

Developmental language disorders (DLD) 50

Autistic spectrum disorders (ASD) 2-4

Dysarthria 1-3

Do’s and don’ts for parents to promote language development

Don’tTry to make your child speak; it’s unhelpful and demoralizing.Use complicated language. Instead, expand a little bit on whatever your child says (e.g., Child: “Cookie!”, Parent: “Oh, you want a cookie”.)Criticize pronunciation or grammatical errors.

DoTalk to your child. Narrate daily events as you do them (e.g., “Okay, now I’m cleaning the floor. Oh, it’s dirty. Can you see the dirt?”)Respond whenever your child speaks. It’s important to reward every utterance.Ask your child a lot of questions (e.g., “What’s that? Where should we put that?”).Accompany your words with gestures to make them more comprehensible.Read books aloud to your child.Keep communication fun!

Other Messages to be taken home DO NOT wait and see ! Parents are very good at recognizing

problems DO NOT let yourself be talked out of your

concerns Parents can self-refer to the local Health

Unit where there are SLP services Refer sooner rather than later (due to wait

list)

Potential Outcomes

Research shows that children with delays who participate in speech-language treatment make more gains than those who don’t.

We know that some children with severe speech-language delays will demonstrate ongoing challenges with verbal language (particularly grammar), reading and writing as well as pronunciation.

Outcomes Delay implies that the child will eventually

catch up to his typically developing peers, however…

Current research indicates that approximately half of the children who have language delays at two years old will continue to have issues by the time they are three to four years old.

Outcomes

Children with persistent language problems entering kindergarten or grade 1 are likely to continue to experience difficulties throughout childhood.

These ongoing difficulties are better described as a language disorder (current research estimates approx. 7% of school age children have language disorders)

Outcomes

Children with persistent language problems at school entry are likely to continue to experience difficulties throughout childhood

Increased risk for language-based learning disabilities

Outcomes …

The prognosis for children with secondary speech or language delay is related to the severity of the underlying disability

(hearing loss, ID/cognitive impairment, autism, cerebral palsy, etc.)

THE END