Jean-Fran

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• Jean-François Lemay
• MD CCFP CPSQ FRCPC
• Professor, Developmental Pediatrician
• Department of Pediatrics, Alberta Childrens
  Hospital
• University of Calgary Faculty of Medicine,
  Calgary , AB

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Disclosure Statement

• Dr Lemay has documented that he has nothing to
  disclose.

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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

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Section I

• General Principles about Developmental Issues

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Important Message

• Infant development occurs in an orderly and
  predictable manner that is determined
  intrinsically
• Developmental Disabilities develop just as normal
  development does

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Developmental Spheres
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Section II. When to Worry About Cognitive
Skills and Communication in Childhood
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• 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?

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Mother of the 2 kids WAIS-IV Composite Scores
Summary
Scale Sum of Scaled Scores Composite Score Percentile Rank 95 Confidence Interval Qualitative Description
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
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Our patient WPPSI-III Composite Scores Summary
Scale Sum of Scaled Scores Composite Score Percentile Rank 95 Confidence Interval Qualitative Description
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
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8-yr-old sister of the patient WISC-IV Composite
Scores Summary
Scale Sum of Scaled Scores Composite Score Percentile Rank 95 Confidence Interval Qualitative Description
Verbal Comprehension (VCI) 5 50 lt0.1 46-61 Extremely Low
Perceptual Reasoning (PRI) 4 46 lt0.1 43-60 Extremely Low
Working Memory (WMI) 2 50 lt0.1 46-63 Extremely Low
Processing Speed (PSI) 11 75 5 69-86 Borderline
Full Scale (FSIQ) 22 45 lt0.1 42-53 Extremely Low
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• 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.

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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)

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Terminology

• Global Developmental Delay child is functioning
  at a level 2 SD below the childs 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

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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

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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

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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

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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.

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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

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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)

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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

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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 Al
low time for questions. Clarify any unanswered
questions promptly. Support Provide verbal and
written information about support / interest
groups.
(adapted from Diggens and Lennox, 199958)
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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
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Classification of Etiology of 178 children with
ID
(adapted from Stromme and Hagberg, 2003 13)
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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

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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.
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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.
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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)

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ID is associated with many genetic syndromes
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Syndromes...

• Fragile X
• most common form inherited MR (Ellaway 2001)
• prevalence 14000 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

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Syndromes associated with MR

• Williams Syndrome
• frequency 110,000
• deletion of 7q11.23
• elfin-like face
• loquacious, overfriendly, ADHD, etc..
• Mild MR/low-average intelligence
• Velocardiofacial syndrome
• prevalence 15,000
• typical dysmorphism
• Mild MR is less frequent

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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 116000-25000
• most common syndromal cause of human obesity
• average IQ /- 70

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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

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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)

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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

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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

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Other assessments

• Neuropsychological evaluation with IQ testing
• Psycho-interview to include personality style
• Evaluation of language production and
  comprehension
• Education evaluation including achievement tests

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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

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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

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ID Benefits of Genetic Evaluation (patient)

• Identification of appropriate medical and non
  medical therapies
• Identification of indicated interventions/referral
  s
• presymptomatic screening for associated
  disabilities
• Education planning
• Eliminate unnecessary testing

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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

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Intellectual disability take home messages

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

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Section III

• Language

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Important questions

• What is communication?
• What is language?

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Communication What is it?

• Non verbal body language, gestures and
  signs
• Verbal
• Speech articulation, voice and fluency
• Language receptive and expressive

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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.

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• 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/Eall normal

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• What would you do?

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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.

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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.

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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

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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

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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.

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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

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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.

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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.

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More than one language at home

• Finally being raised in a bilingual environment
  generally does not slow the process of language
  learning.

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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

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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

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Language problems

• Autism/Anatomic/Acceptable variation
• Blindness/Brain Injury
• Chromosomes/CNS
• Deafness/Developmental Delay
• Environment/Early birth

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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

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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?

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Physical examination

• Growth measurements
• Evaluate developmental milestones
• Complete physical and neurological examination
• Social interactions

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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

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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

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

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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 cant 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?

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Role of SLP

• Assess receptive language (comprehension/understan
  ding)
• Assess expressive language (talking)
• Assess phonological skills (pronunciation)
• (Numerous standardized tests and checklists
  available)

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What we want you to remember
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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

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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

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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

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Dos and donts for parents to promote language
development

• Dont
• Try to make your child speak its 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.
• Do
• Talk to your child. Narrate daily events as you
  do them (e.g., Okay, now Im cleaning the floor.
  Oh, its dirty. Can you see the dirt?)
• Respond whenever your child speaks. Its
  important to reward every utterance.
• Ask your child a lot of questions (e.g., Whats
  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!

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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)

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Potential Outcomes

• Research shows that children with delays who
  participate in speech-language treatment make
  more gains than those who dont.
• 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.

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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.

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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)

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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

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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