pervasive developmental disorders (turner syndrome, klinefelter's syndrome)
TRANSCRIPT
TURNER SYNDROME
Is also known as "Gonadal dysgenesis”
Is a chromosome abnormality found in females in which secondary sex characteristics are developed only with the administration of female hormones. Any abnormality in the internal reproductive organs cause permanent sterility.
HISTORY
• Named after Henry Turner, the endocrinologist who described this condition in 1938• He described 7
patients between the ages of 15 and 23, who were referred to him for dwarfism and lack of sexual development
TURNER SYNDROME
• Is a genetic condition that only affects females• This condition caused
by an abnormal chromosome and affects about one in every 2,500 baby girls
HOW DOES IT OCCUR?
• Turner syndrome is typically caused by nondisjunction• A pair of sex
chromosomes fails to separate during the formation of an egg (or sperm)
SIGNS AND SYMPTOMS
Possible symptoms in young infants:
• Swollen hands and feet• Wide and webbed neck
and a low or indistinct hairline
Older females:• absent or incomplete
development at puberty• A broad chest and
widely spaced nipples
SIGNS AND SYMPTOMS
Older females:• Drooping eyelids, dry
eyes• Infertility• No periods• Short height• Vaginal dryness• Arms that turn out
slightly at the elbow
TREATMENT
• Human growth hormone• Oestrogen replacement
therapy• Progesterone
replacement therapy
KLINEFELTER’S SYNDROME
is a form of chromosome abnormality characterized by feminine physical characteristics like breast development and rounded broad, hipped figure.
KLINEFELTER SYNDROME
Individuals with Klinefelter syndrome have at least two X chromosomes and at least one Y chromosome
Is also known as 47, XXY and XXY syndrome
KLINEFELTER SYNDROME
Because of the extra chromosome, individuals with the condition are usually referred to as :
47,xxy=xxy males
This chromosome constitution (karyotype) exist in roughly between 1:500 to 1:1000 live male births
CAUSEMeiosis I
(gametogenesis)
Nondisjunction occurs when homologous chromosomes (X and Y sex chromosomes) fail to separate, producing a sperm with an X and Y chromosome.
SIGNS AND SYMPTOMS
Babies:Weak musclesSlow motor
developmentQuiet, docile
personalityProblems at birth,
such as testicles that haven’t descended into the scrotum
SIGNS AND SYMPTOMS
Boy and Teenagers
• Taller than average stature • Longer legs, shorter torso
and broader hips compared with other boys
• Absent, delayed or incomplete puberty
• After puberty , less muscular bodies and less facial and body hair compared with other teens
• Small and firm testicles• Small penis
• Enlarged breast tissue (gynecomastia)• Weak bones• Low energy levels• Shyness• Difficulty expressing
feelings or socializing• Problems with reading,
writing, spelling or math• Attention problems
SIGNS AND SYMPTOMS
Boy Teenagers
SIGNS AND SYMPTOMS
Men
• Weak bones• Decreased facial and
body hair• Enlarged breast tissue• Decreased sex drive or
sexual problems• Infertility• Small testicles and penis • Taller than average
stature
DIAGNOSING KLINEFELTER SYNDROME
• The greatest chances to make Klinefelters’s diagnosing are in the following times of life:
Before or shortly after birth
Early childhoodAdolescenceAdulthood
TESTS
Chromosome analysisAlso called karyotyping
analysis, this test is used to confirm a diagnosis of Klinefelter syndrome.
Hormone testingblood or urine samples
can reveal abnormal hormone levels that are the sign of Klinefelter syndrome. The doctor may take samples to be evaluated in the lab.
TESTS
Prenatal testing:Amniocentesis
• In amniocentesis a sample of the fluid surrounding the fetus is withdrawnChorionic villus
sampling• To determine
chromosomal or genetic disorders
TREATMENT
Testosterone • Can normalize body
proportions and promote development of normal secondary sex characteristics
In vitro fertilization• Is a process by which
an egg is fertilised by sperm outside the body
FRAGILE X SYNDROME
It’s a single gene in the brain cell that shuts down that causes Fragile X Syndrome.
SIGNS AND SYMPTOMS
Prominent characteristics of the syndrome
Large protruding ears (one or both)
Long face (vertically maxillary excess)
High-arched palateHyperextensible finger
joints
SIGNS AND SYMPTOMS
Hyperextensible (“Double-jointed”) thumbs
Flat fleet, soft skinPost pubescent
macroorchidism (large testes in men after puberty
Hypotonia (low muscle tone)
Intellectual disabilitySingle palm crease
(crease goes across entire palm)
TREATMENT
• Research has not found a cure yet but there is many therapies available to help the person with fragile x syndrome
Special educationSpeech and language
therapyOccupational therapymedication
PERVASIVE DEVELOPMENTAL DISORDERS
Is a collection of disorders characterized by gross deficits in many areas of cognitive, emotional, and social development. These results from severe and pervasive impairment of social interaction and communication skills.
SCHIZOPHRENIA
• Pervasive developmental disorder have been often been confused with schizophrenia a serious disorder characterized by hallucinations, delusions, and other kinds of thought of disorder not found in the pervasive developmental disorder.
THANK YOU FOR LISTENING AND
GOD BLESS
EXCEPTIONAL DEVELOPMENT
• Every child is unique to himself, in personality traits, in cognitive abilities, in physical stature, in emotional stability and others. Among children, these differences are highly noticeable.
• Even in the aspect of learning some children are fast learner, those gifted with exceptional intellectual capabilities and some are slow, those who function at significantly lower intellectual levels.
THE INTELLECTUALLY GIFTED
• Think in different ways• Think about their work in more
than one way• Talented at solving problems
with what is around them• Are very aware of events going
on around them• Enjoy observing their
surroundings• Enjoy observing their
surroundings• Are risk takers• Are not boastful about
accomplishments• Are motivated to learn through
own accomplishments
CHILDREN WITH INTELLECTUAL DEFICITS
Down Syndrome (cause)• Down syndrome results
when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome.
DOWN SYNDROME FEATURES
Brachycephaly (short skull front-to back)
Excess nuchal (back of neck) skin
Hypoplastic (underdeveloped) midface
Upslanting palpebral fissures (eyelids)
Small ears w/ over-folded helices
DOWN SYNDROME FEATURES
• 5th finger clinodactyly (incurving)• Wide gap between 1st
and 2nd toes• Single transverse
palmar crease(s) (40%)• Heart defect (45%)• Fine, soft hair
TESTS
Prenatal testing:Amniocentesis
• In amniocentesis a sample of the fluid surrounding the fetus is withdrawnChorionic villus
sampling• To determine
chromosomal or genetic disorders
TREATMENT
Physical therapySpeech and language
therapyOccupational therapy