Transcript Developmental Disorders

•typically identified
around 3 years
•critical period
refers to group of
conditions that
involve
delays in
development of
basic skills
Birth Defects
• Any physical, mental, or
biochemical abnormality
present at time of birth.
• Generally formed invitro
• Caused either genetically or
environmentally by what
mother interacts with in
environment (smoking)
http://www.satellitefcc.com/checklist.htm
Charge Syndrome
• People with this syndrome usually have:
– Coloboma of the eye (cleft or keyholeshaped defect occurring in 1 or more areas
of the eye)
– Heart Defect
– Artesia of the Choanae (can’t breathe
through nose)
– Retardation of growth or development
– Genital Hypoplasia
– Ear Malformations
Charge Syndrome
• It is very rare and is
caused by a genetic
defect in one of your
chromosomes
• Tay-Sachs disease is not
able to be detected when a
child is born it is not known
that the child has the
disease until they are six
months.
• These children lose their
motor skills and mental
functions over time the
child may become:
Tay-Sachs
– Blind
– Mentally Retarded
– Paralyzed
– Dead
– Non- Responsive to
the Environment
These children also lack
a vital enzyme
Hexosaminidase A
Dichinda Terrell 3rd
• Hex-A is needed for the
body to breakdown fatty
Tay-Sachs
acids waste found in the
brain cells without it the • Carriers of this
nervous system breaks
disease are :
down over time
– Jewish (Asckenazi)
– Irish
– Cajun
– French-Canadian
– Children with this
disease usually die
around age five.
Dwarfism is a
condition
characterized by
short stature,
which means
adult height is
around 4ft 10 in.
or under
Causes
• Any one of more than 200 conditions
most which are genetic.
• The most common type (accounting for
70% of all cases of short stature) is
called achondroplasia.
• Dwarfism isn't an intellectual disability.
• Someone who has this is typically of
normal intelligence.
Rett’s Syndrome
•Neurodevelopment disorder
•Loss of purposeful use of hands,
distinctive hand movements, slowed
brain and head growth, gait abnormalities,
seizures, mental retardation
•Excessively in Females
•Caused by sporadic mutations in gene
MECP2 located on X chromosome, not
inherited
•No Cure, treated by learning how to cope
with symptoms
Brent Calder
Cleft Palate
• Birth defect
– The tissue that forms the
upper lip and the roof of the
mouth don’t join before the
babies birth.
• Effects
– A notch in the upper lip or a
groove in the roof of the
mouth and nose.
• Treatment
– Surgery
Aicardi Syndrome
-Aicardi Syndrome is a rare genetic disorder in which the corpus
callosum, the substance which connects the two sides of the brain, is
partly or completely missing
-the cause of the disease is still unknown, but some believe it is the result
of a gene defect on the X chromosome
-only 500 cases worldwide, only
Affects girls
Symptoms of disorder
-spasms
-mental retardation
-abnormal spine
-small eyes
-uneven hemisphere sizes
Copeland Tucker
ADD
• Attention-Deficit Hyperactivity
Disorder (ADHD), or Hyperkinetic
Disorder, is a neurobehavioral
developmental disorder affecting about
5% of the world's population. It typically
presents itself during childhood, and is
characterized by a persistent pattern of
inattention and/or hyperactivity.
I HAVE ADD/ADHD!!!!
• Port-wine stain birthmark on forehead,
upper eyelid, one side of face
• Seizures at birth, worsen with age;
usually on side of body opposite
birthmark
• Increased pressure in eye, causing
glaucoma or bulging out of socket
• Neurological disorder
• Loss of nerve cells, calcification of
tissue in cerebral cortex; usually on
same side as birthmark
• Results in mental retardation,
developmental delays in children
Causes
Treatment
• Cause is not known • No cure for
syndrome
• Disease present at
birth, not thought to • Treatment subject to
be hereditary
symptoms
• Ex: Anticonvulsants
for seizures, laser
therapy for
birthmarks
What It Is
• A genetically inherited
condition that ages the
skin faster than normal
• Causes the child to
have a stroke or heart
attack and die at a
young age
• 1 in 4 million are
affected
Anencephaly
• Occurs from a
neural tube defect
that occurs between
the 23rd and 26th day
of pregnancy.
• Results in the
absence of a large
portion of the brain,
skull, or scalp.
Wallace
Sprayberry
Fetal Alcohol Syndrome
• There is no cure.
• FAS is caused when a
women consumes
alcoholic beverages
during her pregnancy.
• Results of FAS
include:
• low birth weight
• small head
circumference
Fetal Alcohol Syndrome
• failure to thrive
• organ dysfunction
• facial abnormalities: smaller eye openings,
flattened cheekbones, and indistinct philtrum
• epilepsy
• poor coordination/fine motor skills
• poor socialization skills
• lack of imagination
• learning difficulties
• behavioral problems
Down’s Syndrome
• Caused by a presence of
an extra 21st
chromosome. 47 instead
of 46 chromosomes.
• Causes an impairment of
cognitive ability and
physical growth.
• Probability increases with
maternal age
• Most common single
cause of birth defects.
• Affects 1 per 800 births.
Sam Taylor
Characteristics
•
•
•
•
•
•
•
Poor muscle tone
Flat nasal bridge
Protruding tongue
Heart defects
Asymmetrical skull
Short hands
Retarded growth and
development
Sam Taylor
Langer-Giedion Syndrome
• rare genetic disorder
caused by a deletion of
chromosomal material.
• learning difficulties
• short stature
• unique facial features
• skeletal abnormalities
including bony growths
projecting from the
surfaces of bones
• hearing loss and delayed
speech.
William’s Syndrome
• It is a rare genetic disorder occurring in
about 1 in 7500 live births.
• It causes an “Elfin” facial appearance,
unusually cheerful demeanor,
unpredictably occurring negative
outbursts, mental retardation, love for
music, and cardiovascular problems.
•
Joseph Eiland
Causes
• William’s
Syndrome is
caused by deletion
of genetic material
in chromosome 7.
Autism
• A brain development disorder that causes
restricted and repetitive behavior
• Impairs social interaction and communication
• One of the five pervasive developmental
disorders
• Symptoms usually start before a child is
three years old.
• About a 1/3 to 1/2 of individuals with
autism do not develop enough natural speech
to meet their daily communication needs
Causes Of Autism
• The cells and connections in the brain of an
autistic person, especially those that affect
communication, emotions, and senses, don't
develop properly or get damaged.
• Heritability causes more than 90% of autism
cases
• Scientists are still trying to understand how
and why this happens.
• Learning disability
some kids have with
reading, spelling, and
writing
• Makes words look
jumbled
• Inherited condition
• Can be treated
Katie Cantrell
Hydrocephalus
“Water-head”
A condition in
which the skull
grows unusually
large, do to an
abnormal
accumulation of
cerebrospinal fluid
in the ventricles of
the brain. This
fluid creates a lot
of pressure,
pushing the skull
outward.
1 out of 500 births
Leading cause of brain surgery
Estimated
700,000
people
living with
this disorder
Justin Rogers
Turner Syndrome
• It occurs in 1 out of every 2500 female births.
• Genetic disorder that affects a girl’s
development.
• Cause is due to only one female X chromosome
instead of two.
• Symptoms include: short stature, low set ears,
webbed neck, increased weight, and swelling of
the hands and feet.
• There is no specific treatment for the disorder,
just treatment for the symptoms.
Stephen Quesinberry
Clubfoot
•Is a fairly common for birth defect
–1 in every 1,000 births
•Causes foot to be twisted in and down
•50% of cases are bilateral
–Both feet
•More common in males than females
Andrew Bellisle
Causes… and…
• Edward’s Syndrome
• Spina Bifida due to congenital abnormality
…Treatments
• Consultant Orthopedic
Surgeory
• Ponseti Method
-Most popular type of
manipulation