syndromes of dd Flashcards
(41 cards)
Syndrome
“A complex of concurrent signs and symptoms that are characteristic of a particular condition or disorder”
De novo
A new genetic mutation (not inherited)
Dysmorphic
Malformed (e.g. facial features)
Microcephaly
Small head circumference
Stereotypic Behaviour
Repetitive movements or vocalizations
Hypotonia
Weak muscle tone
what is the cause of Angelemans?
Caused by an abnormality of chromosome 15
why is Angelman’s syndrome also called the Happy Puppet?
Excessive laughter
Puppet-like gait
what are the Physical characteristics of Angelmans?
Microcephaly
Dysmorphic facial features- wide mouth, pointy chin, prominent tongue, wide-spaced teeth, large jaw, deep set eyes
Half have fair coloured hair and skin, and blue eyes
May have strabismus (lazy eye)
what are some of the Functional and Behavioral Characteristics of Angelmans
Severe to profound ID
Speech impairment
Often have seizures (80%)
Jerky movements and hand flapping
what is the cause of Cri Du Shat?
De novo chromosome 5 defect (5p minus)
what are the physical characteristics of Cri Du Shat?
Early hypotonia (low muscle tone)
Prominent epicanthic fold (fold in the corner of your eyes)
Microcephaly
Low set ears
what are the Functional and behavioral characteristics of Cri Du Shat?
Functional and Behavioural Characteristics:
Named after the high-pitch, cat-like cry
Severe motor, language, and developmental delay
Stereotypic behaviours
Hyperactive, distractible, restless
what is the cause of Phenylketonuria (PKU)?
Autosomal recessive disorder
Essential amino acid phenylalanine is not properly metabolized
High levels of phenylalanine causes brain damage
High incidence in Yemenite Jews
what are the physical characteristics of PKU?
Eczema
Fair skin, hair, and blue eyes
Characteristic odor of the urine
what are the Functional and Behavioral characteristics of Phenylketonuria (PKU)
Must follow a diet of low phenylalanine foods
No symptoms if diet started within 3 weeks of age, mild symptoms if started between 3-6 weeks, and little benefit if started after 6 months
what happens if Phenylketonuria (PKU) is untreated?
Developmental delays
Behavioural difficulties (e.g. aggression, hyperactivity, impulsiveness)
Exaggerated reflexes
Seizures
Involuntary twisting of upper extremities, stereotypic behaviour
what is the cause of Prader-Willi Syndrome?
Genetic imprinting disorder- loss of genes in chromosome 15
what are the phyiscal characteristics of Prader-Willi Syndrome?
Dysmorphic facial characteristics Fair skin and hair, blue eyes Hypotonia (weak muscle tone) Obesity Undescended testicles, small penis/testes, low testosterone Short stature, small hands and feet
what are some of the functional and behavioral characteristics of Prader Willi Syndrome?
Mild to moderate ID
Compulsive eating
Challenging behaviour: aggression, irritability, stubbornness, anxiety, self-injurious behaviour
what is the cause of Williams Syndrome ?
De novo microdeletions on chromosome 7
what are some of the physical symptoms of Williams Syndrome?
Elfin-like facial features
Low birth weight and growth delay
Renal and cardiovascular irregularities
Congenital heart defects including hypertension
Difficulties with feeding, digestion, constipation, and urination
what are some of the Functional and Behavioral Characteristics of Williams syndrome?
Developmental delays Auditory sensitivity Higher language abilities Very friendly Exceptional musical abilities Emotional and behavioural difficulties such as anxiety, ADHD, lack of social
what are some of the Genetic, X-Linked Disorders ?
Cornelia de Lange Syndrome
Hunter Syndrome
Klinefelter Syndrome
Lesch-Nyhan Syndrome
