Pervasive developmental disorders (turner syndrome, klinefelter's syndrome)

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