•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 keyhole-shaped 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• 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:

– Blind– Mentally Retarded– Paralyzed– Dead– Non- Responsive to

the Environment

These children also lack a vital enzyme Hexosaminidase A

Dichinda Terrell 3rd

Tay-Sachs• Hex-A is needed for the

body to breakdown fatty acids waste found in the brain cells without it the nervous system breaks down over time

• Carriers of this disease are :– Jewish (Asckenazi)– Irish– Cajun– French-Canadian

– Children with this disease usually die around age five.

Dwarfism is a Dwarfism is a condition condition

characterized by characterized by short stature, short stature, which means which means adult height is adult height is

around 4ft 10 in. around 4ft 10 in. or underor under

CausesCauses• Any one of more than 200 conditions Any one of more than 200 conditions

most which are genetic.most which are genetic.• The most common type (accounting for The most common type (accounting for

70% of all cases of short stature) is 70% of all cases of short stature) is called achondroplasia.called achondroplasia.

• Dwarfism Dwarfism isn'tisn't an intellectual disability. an intellectual disability.• Someone who has this Someone who has this is typically of is typically of

normal intelligence.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 symptomsBrent 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

• Cause is not known

• Disease present at birth, not thought to be hereditary

Treatment

• No cure for syndrome

• Treatment subject to 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

http://personal.telefonica.terra.es/web/sindromedeturner/pterigium.jpg

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