Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by cognitive delays, slower physical development, and distinctive facial features. Individuals with Down syndrome often have health issues such as heart defects, hearing or vision problems, thyroid issues, and an increased risk of Alzheimer's disease. Their development follows a specific pattern, with relative strengths in social skills but delays in motor skills, language, and short-term verbal memory. Early intervention and education can help maximize their learning potential over their lifetime.
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
For many parents, this question of what is Down syndrome is asked to understand the basics. This presentation gives the real parents the non medical jargon answers. Read more about what is Down syndrome at http://specialfamiliescoach.com/what-is-down-syndrome-for-real-parents/ or read more about parenting children with special needs at http://specialfamiliescoach.com/
Parents who have just gave birth or will give birth to a baby with Down syndrome are looking for answers. There are probably more questions than there are answers. Hopefully this presentation will give you the basic understanding to what is Down syndrome.
The presentation talks about a few key topics in the world of Down syndrome. It talks about Down syndrome facts, symptoms of Down syndrome, and what causes Down syndrome?
You can also watch a video to parents who are asking the question what causes Down syndrome?
https://www.youtube.com/watch?feature=player_embedded&v=Vhc0r7UQxj4
Find out more information from reliable resources:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://ghr.nlm.nih.gov/condition/down-syndrome
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
For many parents, this question of what is Down syndrome is asked to understand the basics. This presentation gives the real parents the non medical jargon answers. Read more about what is Down syndrome at http://specialfamiliescoach.com/what-is-down-syndrome-for-real-parents/ or read more about parenting children with special needs at http://specialfamiliescoach.com/
Parents who have just gave birth or will give birth to a baby with Down syndrome are looking for answers. There are probably more questions than there are answers. Hopefully this presentation will give you the basic understanding to what is Down syndrome.
The presentation talks about a few key topics in the world of Down syndrome. It talks about Down syndrome facts, symptoms of Down syndrome, and what causes Down syndrome?
You can also watch a video to parents who are asking the question what causes Down syndrome?
https://www.youtube.com/watch?feature=player_embedded&v=Vhc0r7UQxj4
Find out more information from reliable resources:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://ghr.nlm.nih.gov/condition/down-syndrome
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
This presentation offers definitions of National and Corporate Culture and shows where, when and why they are important in establishing successful international partnerships. The same principles around Corporate Cultural Differences apply in domestic JVs and M&As.
To organise activities for beneficiaries from Down Syndrome Association Singapore to help them upgrade their social skills, be more independent and to bloom as an individual. We would organise more activities especially during their holidays, this includes interaction sessions with beneficiaries, and even educational outings (to places such as Botanic Gardens and Hortpark) and workshops in order to expose beneficiaries to various educational elements so as to widen their perspectives.
Down’s syndrome health problems and strategies for careKhulood Alzahrani
- What is Down syndrome
- Incidence and Types of Down syndrome
- General features of person with Down syndrome
- Complications associated with Down syndrome
- Mental health and behavioral problems and its management
- Features Related to Dentistry
- Managements in dental clinic
It is a description of Active citizen positive youth project by students of Institute of professional psychology. Active citizens group Shama is running awareness campaign to aware people of importance of hygiene and health and would later on improve awareness regarding other important societal issues among masses in Pakistan.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
2. INTRODUCTION
What is down syndrome?
It is a set of mental and physical symptoms that
result from having an extra copy of
chromosome 21
in other words…
A set of physical, mental and behavioral
characteristics that are due to a specific genetic
abnormality ( Leshin, 2003).
3. Historical background
• In 1866 John Langdon Down described a group of
children with common traits that differed from other
children with mental retardation.
• In the beginning, children with down syndrome were
referred as “mongoloids” because they looked like
people Mongolia, the term changed into Down’s
syndrome.
4. • Every cell in the human body contains genetic
material stored in genes that carry inherited traits
which are grouped in structures called chromosomes.
• The nucleus of each cell contains 23 pairs of
chromosomes, half of which are inherited from each
parent.
5. Symptoms of Down Syndrome
• Flattened face and nose
• Upward slant of the eyes
• Poor muscle tone and short neck
• Mental retardation
• Small mouth sometimes with larger tongue
• Abnormally-shaped ears and short fingers
• White spots in the iris
6. CONT.
• Increased risk of various medical states such
as:
• Heart problems
• Alzheimer's disease
• Thyroid conditions
• Leukemia
7. CONT.
• Cognitive delays and difficulties in:
Developing basic language skills & motor
skills & learning abilities (such as memory &
concentration problem).
• Difficulty in:
Solving problems & the comprehension of
consequences of their actions.
9. Short extremities i.e. Short broad
hands and height
Eyes that slant upward/ Up-slanting
slanting palpebral fissures
General appearance & Facial Features
17. System of the body Effects
CNS moderate to severe mental retardation
& seizure disorders
Psychiatric/ Psychological Usually very cheerful and gentle.
ADHD, ASD, OCD, depression,
early dementia.
CVS Congenital defects like endocardial
cushion defect and others
Other Hypothyroidism, leukaemia,
Impaired cellular immunity.
19. What Causes Down Syndrome?
ETIOLOGY
• Down syndrome (or Down's syndrome) is
a chromosomal disorder caused by an
error in cell division that results in an
extra 21st chromosome.
• When the baby’s cells develop, each cell is
supposed to receive 23 pairs of
chromosomes. Half of the chromosomes
are from the mother and half from the
father.
20. • The condition leads to impairments in
both cognitive ability and physical
growth that range from mild to
moderate developmental disabilities.
• Some times its because of error in cell
divisions.
• Attached extra piece of chromosomes.
22. Clinical Appearance of Down’s
Syndrome
• Each person with Down's syndrome is
affected differently, but most share a
number of physical characteristics and
developmental problems.
23. Physical Appearance
• People with Down's syndrome often have
certain physical characteristics. Not
everyone will have all of them, but they
may include:
• reduced muscle tone which results in
floppiness (hypotonia)
• a small nose and flat nasal bridge
• a small mouth with a protruding tongue
• eyes that slant upwards and outwards
24. • a flat back of the head
• a big space between the first and second
toe (sandal gap)
• broad hands with short fingers
• their palm may have only one crease
across it (single transverse palmar crease)
• a below average weight and length at
birth
25. • However, Down's syndrome do not all
look the same and will share physical
features with their parents and family.
26.
27. Living with Down's syndrome
• Having Down's syndrome, or having a
child with the condition, can be
challenging at times. But with help and
support, most people are able to have
healthy, active and more independent
lives.
28. Emotional impact
• In some cases, it may not be apparent a
baby has Down's syndrome until after
they are born.
• Some families accept their baby's
diagnosis of Down's syndrome quickly,
while others need time to adjust.
29. • If you have recently found out your child has
Down's syndrome, you may feel a range of
emotions, such as fear, sadness or confusion.
• It is quite common for parents to feel
overwhelmed or have negative thoughts
after the birth of their new baby.
• There is no right or wrong way to react.
Finding out more about the condition will
give you a better understanding about how it
may affect your child's life, as well as your
own.
30. Relationships, Sex and Fertility
• Many people with Down's syndrome enter loving
relationships, although they may need guidance
and support when it comes to things such as
contraception.
• Men and women with Down's syndrome tend to
have a reduced fertility rate.
• This does not mean they cannot conceive children,
but it does make it more difficult.
• Those who decide to have children will usually
need specialist guidance and support to help them
cope with the physical and mental demands of a
newborn baby.
31. • If one partner in a couple has Down's
syndrome, there is around a one in two
chance of each of their children having
Down's syndrome too. The risk of
miscarriage and premature birth is also
greater in women with Down's syndrome.
33. Children with Down syndrome are at an increased
risk for certain health problems
• Heart defect
• Vision problems
• Hearing loss
• Blood disorders
• Hypotonia (poor muscle tone).
• Infections
• Digestive problems
• Gum disease and dental problems
• Thyroid problems
34. • Heart defects. Almost one-half of
babies with Down syndrome have
congenital heart disease (CHD), the
most common type of birth defect.
CHD can lead to high blood
pressure in the lungs, an inability of
the heart to effectively and
efficiently pump blood
35. • Vision problems. More than 60% of
children with Down syndrome have
vision problems, including cataracts
(clouding of the eye lens) that may be
present at birth.
• The risk of cataract increases with age.
• Other eye problems that are more
likely in children with Down
syndrome are near-sightedness,
“crossed” eyes, and rapid, involuntary
eye movements
36. • Hearing loss. About 70% to 75% of
children with Down syndrome have
some hearing loss, sometimes
because of problems with ear
structures.
• Blood disorders. Children with
Down syndrome are 10 to 15 times
more likely than other children to
develop leukemia which is cancer of
the white blood cells
37. • Hypotonia (poor muscle tone). Poor
muscle tone and low strength
contribute to the delays in rolling
over, sitting up, crawling, and
walking that are common in
children with Down syndrome
38. Infections
Respiratory infections are more common
among people with Down syndrome,
especially during the first five years of
life. Infections of the skin and the
bladder also tend to be common.
Digestive problems
Digestive problems range from
structural defects in the digestive system
or its organs, to problems digesting
certain types of foods or food ingredients
39. • Gum disease and dental problems.
Children with Down syndrome may
develop teeth more slowly than
other children, develop teeth in a
different order, develop fewer teeth,
or have misaligned teeth compared
to children who do not have Down
syndrome
40. Thyroid problems
Around one in 10 people with Down's
syndrome have problems with their
thyroid gland. Most people with Down's
syndrome who have a problem with
their thyroid have hypothyroidism,
which means their thyroid gland is
underactive. Symptoms of an
underactive thyroid gland can include:
• lethargy (lack of energy)
• weight gain
• slow physical and mental reactions
41. • Adults with Down syndrome are
also at increased risk for
Alzheimer’s disease, thyroid
conditions and sleep apnea. The
majority of people born with Down
syndrome today have an average
life expectancy of 55 years, with
some living into their seventies.
43. • Children with Down syndrome usually learn and
progress more slowly than most other children.
• However, not all areas of development are equally
affected.
• There is a specific pattern of cognitive and
behavioral features that are observed among
children with Down syndrome that differs from
that seen in typically developing children and
children with other causes of intellectual
disability.
• We refer to this pattern of characteristic strengths
and weaknesses as a ‘developmental profile’.
44. By understanding how development and
learning differs for children with Down
syndrome we can devise more effective
teaching approaches and therapies.
45. Social development
The social functioning of babies and children
with Down syndrome is relatively less
delayed than other areas of development.
Babies with Down syndrome look at faces
and smile only a week or two later than other
children and they are usually sociable
infants.
Infants with Down syndrome enjoy
communicating and make good use of non-
verbal skills including babbling and gesture
in social situations.
46. Learning with visual supports
Research suggests that people with Down
syndrome learn better when they can see
things illustrated.
This finding has been demonstrated across a
number of areas of development including
the acquisition of language, motor skills and
literacy.
This suggests that teaching will be more
effective when information is presented with
the support of pictures, gestures or objects.
47. Word reading
Many children with Down syndrome can
develop reading abilities in advance of what
might be expected for their cognitive and
language levels.
Reading makes an important contribution to
vocabulary and language development for all
children
This may be a particular benefit for children
with Down syndrome, given their specific
language delays.
48. Motor development
Motor skills develop at a slower rate for
children with Down syndrome than for those
without.
These delays in motor development reduce
infants’ opportunities for exploring and
learning about the world around them and
therefore further affect cognitive
development.
Poor oral motor control may impact the
development of language skills.
49. Expressive language, grammar and
speech clarity
Children with Down syndrome show specific
delays in learning to use spoken language relative
to their non-verbal understanding.
Almost every child will have expressive language
that is delayed relative to their language
comprehension.
The children experience two types of expressive
difficulty - delay in mastering sentence structures
and grammar, and specific difficulties in developing
clear speech production.
50. The gap between the children’s
understanding and their ability to express
themselves is a cause of much frustration and
can sometimes lead to behavior problems. It
can also result in the children’s cognitive
abilities being underestimated.
Language delay also leads to cognitive delay
as much human learning is through language
and language is internalized for thinking,
remembering and self-organization.
51. Number skills
Most children with Down syndrome struggle
with basic number skills and their number
skills are typically some 2 years behind their
reading skills.
There is a need for more research into the
reasons for this.
Currently, the best available advice is to
draw on what is known about the children’s
learning strengths and to use maths teaching
systems that make full use of visual supports
to teach number concepts
52. Verbal short-term memory
Short-term memory is the immediate memory
system which holds information ‘in mind’ for
short periods of time and supports all learning
and cognitive activity.
It has separate components specialised for
processing visual or verbal information.
The ability of children with Down syndrome to
hold and process verbal information is not as good
as their ability to hold and process visual
information.
These verbal short-term memory problems make
it more difficult to learn new words and sentences.
53. They also make it more difficult to process spoken
language and this can adversely affect learning in
the classroom.
Studies suggest that the processing and recall of
spoken information is improved when it is
supported by relevant picture material.
This information has led to educators stressing the
importance of using visual supports including
pictures, signs and print when teaching children
with Down syndrome as this approach makes full
use of their stronger visual memory skills.
54. Some Facts about Children
with Down Syndrome
• All individuals with Down syndrome have some degree of
mental retardation.
• They learn more slowly and have difficulty with complex
reasoning and judgment, but they do have the capacity to
learn.
• It is important to remember that it is impossible to predict the
degree of mental retardation in an infant with Down
syndrome at birth (just as it is impossible to predict the IQ of
any infant at birth).
• 40% of all children born with Down syndrome will have
a congenital heart defect. Some of these defects are mild and
require no treatment and others are more severe and may
require surgery and medical management
55. Continue
• Children with Down syndrome can and
do learn, and are capable of developing
skills throughout their lives. They simply
reach goals at a different pace.
• There is often a misconception that
individuals with Down syndrome have a
“static” or predetermined ability to learn.
(which is not true)
• It is now known that individuals with
Down syndrome develop over the course
of their lifetime and should be treated
accordingly.
• The learning potential of an individual
with Down syndrome can be maximized
through early intervention, good
education, higher expectations and
56. Psychological Characteristics
• At least half of all children and adults with Down syndrome face a
major mental health concern during their life span.
• Children and adults with multiple medical problems experience an
even higher rate of mental health problems.
• The most common mental health concerns include:
general anxiety,
repetitive and obsessive-compulsive behaviors;
oppositional, impulsive, and inattentive behaviors;
sleep related difficulties;
depression;
autism spectrum conditions; and
neuropsychological problems characterized by progressive loss of
cognitive skills.
57. • Young and early school age children with limitations in
language and communication skills, cognition, and non-
verbal problem solving abilities present with increased
vulnerabilities in terms of:
Disruptive, impulsive, inattentive,
hyperactive and oppositional behaviors
(raising concerns of coexisting
oppositional disorder and ADHD)
Anxious, stuck, ruminative, inflexible
behaviors (raising concerns of co-existing
generalized anxiety and obsessive-
compulsive disorders)
Deficits in social relatedness, self-
immersed, repetitive stereotypical
behaviors (raising concerns of co-existing
autism or pervasive developmental
disorder)
Chronic sleep difficulties, daytime
sleepiness, fatigue, and mood related
problems (raising concerns of co-existing
sleep disorders and sleep apnea)
58. • Older school age children and adolescents, as well as young adults
with Down syndrome with better language and communication and
cognitive skills presenting with increased vulnerability to:
Depression, social withdrawal,
diminished interests and coping
skills
Generalized anxiety
Obsessive compulsive behaviors
Regression with decline in loss of
cognitive and social skills
Chronic sleep difficulties, daytime
sleepiness, fatigue, and mood
related problems (raising concerns
of co-existing sleep disorders and
sleep apnea)
59. • Older adults present with increased
vulnerability to:
Generalized anxiety
Depression, social withdrawal, loss
of interest, and diminished self-care
Regression with decline in cognitive
and social skills
Dementia
• Note: All these changes in behavior
often seem to occur as a reaction to
(or triggered by) a psychosocial or
environmental stressor, e.g., illness
in, separation from, or loss, of a key
attachment figure.
Editor's Notes
children with Down syndrome are often delayed in their 'developmental milestones' such as walking or talking. While they tend to do so later than other children, children with Down syndrome will learn to walk and talk
The pattern of mental health problems in Down syndrome vary depending on the age and developmental characteristics of the child or adult with Down syndrome.