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5 Essential Concepts: first
Anatomical/ physiological dysfunction results in a neurodevelopmental disorder
5 Essential Concepts: Second essential concept
Neurological, intellectual and physical disabilities can be traced back to the
neurodevelopmental disorder
5 Essential Concepts: Third essential concept
Each neurodevelopmental disorder is associated with multiple primary complications.
Cognitive impairment ( Mental retardation)
Sensory impairment (Deafness/ Blindness)
5 Essential Concepts: Fourth essential concept
Each primary complication of the neurodevelopmental disorder is associated with secondary effects on health
Tooth decay and oral disease may be due to patient’s inability to maintain hand dexterity and coordination
5 Essential Concepts: Fifth essential concept
Neurodevelopmental disorders may have an association with predictable primary conditions
Macroglossia and micrognathia in Down syndrome
Down Syndrome
Trisomy 21 is a chromosomal defect caused by the presence of a 21st Chromosome
It is named after John Langdon Down 1866
Incidence is estimated at 1 per 733 births
Statistically more common with older parents due to increased mutagenic exposures of reproductive cells as age increases
Occurs in all human population
Can be detected intrauterine with CVS (chorionic villous sampling) and
amniocentesis
Down Syndrome: Physical signs
Microgenia (Abnormally small chin)
Oblique eye fissures
Hypotonia of muscles
Flat facies
Flat nasal bridge
Single palmer fold
Protruding tongue
Macroglossia
Short neck
Short stature
Bowed legs
Down: Mental Features
Intellectual disability (IQ- Mild: 50-70/ Mod: 35- 50)
Behaviour: ‘Affectionate, playful, imitative, shy’
Learning disability
Physical delay (walking) → bowing of the legs
Delayed cognitive functions
Speech delay
Fine motor skills are delayed
Vision impairment
Hearing impairment
Down: Co-morbidities
Congenital heart conditions (AV septal defect)
Malignancies: Leukemia (ALL)
Hypothyroidism (Congenital absence) (cretinism if it is in a baby)
Gastrointestinal disease (Hirschsprung’s Ds.)
Infertility/ Miscarriage/ Difficult labor
Epileptic convulsions
Vision disorders : Glaucoma
Diseases of aging and dementia
Teeth and Oral cavity
Susceptible to gingivitis, severe periodontal disease necrotizing ulcerative gingivitis and early tooth loss
Research suggests that the severity is likely a result of a weakened immune system.
Increased incidence of Candida albicans in the mouth
Higher rates of tooth wear and bruxism
Enlarged hypotonic tongue, crusted and hypotonic lips, mouth breathing, narrow palate with crowded teeth.
Oral cavity
Class III malocclusion with an underdeveloped maxilla and posterior crossbite
Delayed exfoliation of baby teeth and delayed eruption of adult teeth
Shorter roots on teeth, and often missing and malformed (usually smaller) teeth
Less common manifestations include cleft lip and palate and enamel hypocalcification (20% prevalence)

Macroglossia is defined as__________?
A. Large skull
B. Small chin
C. Large mandible
D. Large tongue
D. Large tongue
Autism, or autism spectrum disorder (ASD)
refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech and nonverbal communication
CDC: 1 in 54 children in the US are affected by ASD
Subtypes: combination of genetic and environmental factors
ASD may require significant support in their daily lives, while others may need less or live independently.
Often accompanied by sensory sensitivities and medical issues such as gastrointestinal (GI) disorders, seizures or sleep disorders, as well as mental health challenges such as anxiety, depression and attention issues
Autism Spectrum Disorder
Signs of autism usually appear by age 2 or 3 yrs.
Associated development delays can appear even earlier, and often, it can be diagnosed as early as 18 months
Early intervention leads to positive outcomes later in life
American Psychiatric Association merged four distinct autism diagnoses into one umbrella diagnosis of autism spectrum disorder (ASD)
1. Autistic disorder
2. Childhood disintegrative disorder
3. Pervasive developmental disorder-not otherwise specified (PDD-NOS)
4. Asperger syndrome