Down syndrome is a genetic condition caused by trisomy of chromosome 21. It occurs in about 1 in 700 live births. Clinical features include intellectual disability, characteristic facial features such as a flat face, upward slanted eyes, and a protruding tongue. Individuals with Down syndrome also have an increased risk of certain medical conditions such as congenital heart defects and thyroid problems. Prenatal screening and diagnostic tests can identify Down syndrome in utero. Lifelong medical care is important to monitor development, screen for associated conditions, and support quality of life.
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.
Marfan syndrome - a detailed study ( all medical information )martinshaji
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.
please comment
thank you
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
Marfan syndrome - a detailed study ( all medical information )martinshaji
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.
please comment
thank you
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
Congenital anomalies of baby are not uncommon. They do occur sporadiacally. They may be major or minor malformations.
They may be lethal and irreparable sometimes.
Human reproduction is remarkably inefficient; Only 420 are born alive out of 1000 fertilizations, nearly 70% of human conceptions do not survive to live birth. The stillbirth in india is highest in the world 7% to 14% in different states Odisha 8% Karnataka 14% (of course reported only) Recurrent pregnancy loss is a psychologically stressful diagnosis for couples, in approximately 50% of cases, no cause will be found. The number of evidence-based practices available for guidance is limited. This confluence of factors presents a challenge for clinicians. However, in studies of interventions aimed at reducing rates of miscarriage in women with otherwise unexplained RPL, control groups experience a live birth rate of up to 87% with no intervention. Thus, one of the most significant things we can do when caring for these complex patients is to offer them emotional support and accurate information. As more work is done in this emerging area of reproductive science, we will be able to shed more light on this complex problem.
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
All manuscripts are subject to rapid peer review. Those of high quality (not previously published and not under consideration for publication in another journal) will be published without delay.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
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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
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
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
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.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
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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.
1. Down syndrome
Dr. Neha Sharma
DNB (Pediatrics) Resident, III rd Year
Santokba Durlabhji Memorial Hospital,
Jaipur
2. OUTLINE
GENETICS
CLINICAL FEATURES
PRENATAL DIAGNOSIS
AGE SPECIFIC HEALTHCARE GUIDELINES
RECURRENCE
COUNSELLING
3. Brief Historical Perspective
2.5k year old artefacts
depicting typical
features
First described by
John Langdon Down
in 1866
Discovered that cells
had an extra
4. Genetics
Trisomy 21 (47, +21), - 94 %
frequency maternal age
Robertsonian Translocation involving
chromosome 21- Approx. 3-4 %, not
related to maternal age.
Trisomy 21 Mosaicism – 2 to 3 %
cases
6. Chromosome 21
≥ 400 genes
2/3 of these are “compensated”
1/3 are over-expressed referred to as being
“dosage sensitive.”
May be “typical” or “amplified”
13. Maternal Age
(Years)
Incidence in term
live births
15-29 1 in 1500
30-34 1 in 800
35-39 1 in 270
40-44 1 in 100
> 45 1 in 50
Relation with maternal age
contd.
Ref: Smith’s Recognizable
patterns of Human malformations
7th edn.
15. Site of Translocation Percentage
Both parents normal <1%
Mother carrier 10%
Father carrier 2.5%
Either parent t(21q;21q) 100%
Mosaics <1%
16. Mosaicism
Non disjunction event early in
embryogenesis in a normal embryo
Down Syndrome embryo undergoes
division
some cells revert to normal
Considerable variability in proportion of
affected cells in tissues
17. Clinical features
Most Common pattern of
Human malformation
Most Common genetic cause
of severe Intellectual Disability
30. Intellectual Disability
From Levine MD, Carey WB, Crocker AC, editors: Developmental-behavioral
pediatrics, ed 2, Philadelphia, 1992, Saunders.
31. Clinical features in Adolescence
and Adult
Puberty
- in Girls menarche is only slightly
delayed. Fertility presumed
- in Boys are usually infertile due to low
testosterone levels
Increased risk of dementia (50-60% by
70)
Increased risk of Alzheimer’s
Shorter life expectancy (58.6 yrs)
32. Prenatal Diagnosis
PRENATAL SCREENING
-“Triple/Quad/Pentad screen" can be done
in
1st & 2nd trimesters (alone or sequentially or
in combination)
Alpha-fetoprotein
Unconjugated Estriol
Free β subunit of Human Chorionic
Gonadotropin (hCG)
Inhibin A
36. A New Maternal Blood Test?
January 2011, a research group from
China
Study in the British Medical Journal
High rate of correct diagnosis of
Trisomies
Using the mother's blood
Looks for “cell-free DNA” of foetal origin
could eliminate the need for 90% of
invasive diagnostic testing
Large scale trial ongoing
37. Counts sections of
DNA by high speed
sequencing
More than expected
foetal DNA denotes an
abnormality
PPV 45.2 cf 4.2 by
standard blood tests
(10 times more
sensitive)
Similar results for
Edwards Syndrome
Courtesy Illumina
38. Amniocentesis
15 – 18 wks GA
20 ml fluid
Ultrasound guided
Pregnancy loss 1 in 300
10 – 13 wks GA
Needle biopsy under
ultrasound guidance
Pregnancy loss 1 in 100
Chorionic Villus Sampling
43. Healthcare Guidelines (Age
Specific)
INFANCY (2-12 MONTHS)HISTORY
◦ Parental concerns
◦ Respiratory infections
(especially otitis media)
◦ Constipation (use
aggressive dietary
measures, consider
Hirschprung’s)
◦ Vision/Hearing
EXAM
◦ General
neurological, neuromotor, m
usculoskeletal exam
◦ TMs (refer to ENT if you
cannot see them and are
suspicious of otitis)
LAB, CONSULTS
◦ If not done as
newborn, pediatric cardiology
evaluation and ECHO ( VSD
or AV septal defect ,quiet
progressive pulmonary
hypertension)
◦ BERA or other assessment of
hearing by 6 months if not
done as newborn.
◦ Pediatric opthalmology
evaluation by 6-12 months if
not done as newborn.
◦ ENT for recurrent otitis.
◦ T4, TSH (if not done)
45. Self Help Skills
SKILL Down syndrome
Average (mo) Range(mo)
Normal Children
Average (mo) Range(mo)
EATING
Finger feeding 12 8 - 28 8 6 - 16
Using
spoon/fork
20 12 - 40 13 8 - 20
TOILET TRAINING
Bladder 48 20 - 95 32 18 - 60
Bowel 42 28 - 90 29 16 - 48
DRESSING
Undressing 40 29 - 72 32 22 - 42
Putting clothes
on
58 38 - 98 47 34 - 58
From Levine MD, Carey WB, Crocker AC, editors: Developmental-
behavioral pediatrics, ed 2, Philadelphia, 1992, Saunders.
46. Healthcare Guidelines (Age Specific)
INFANCY (2-12 MONTHS)
DEVELOPMENTAL
◦ Early Intervention
◦ Physiotherapy, Oral Therapy evaluations
◦ Developmental assessment
RECOMMENDATIONS
◦ Family support
◦ SBE prophylaxis as indicated
47. Healthcare Guidelines (Age Specific)
CHILDHOOD (1-12 YRS)
HISTORY
◦ Parental concerns
◦ Current level of functioning
◦ Current programming (3-4
year old program, school,
special education)
◦ Behavior problems
◦ Ear problems
◦ Sleep problems
◦ Constipation
◦ Obesity
◦ Review audiologic and thyroid
function tests
◦ Review opthalmologic and
dental care
EXAM
◦ General pediatric and
neurologic exam.
LABS, CONSULTS
◦ T4,TSH yearly
◦ ECHO if not done
◦ Auditory testing yearly (1-3
yrs),every 2 years (3-
13Years)
◦ Eye exams every 2 years if
normal, more often if
abnormal
◦ Lateral C-spine films (neutral,
flexion and extension) at 3
years and l2 years for
48.
49. Healthcare Guidelines (Age
Specific)
CHILDHOOD
DEVELOPMENTAL
◦ Enroll in appropriate educational program
◦ Consider augmentive communication device as indicated
RECOMMENDATIONS
◦ Twice daily tooth brushing
◦ Caloric intake below RDA
◦ Monitor diet, high fiber
◦ Exercise
◦ Oral Therapy, Physiotherapy as needed
◦ SBE prophylaxis as needed
◦ Monitor family needs for respite care, supportive
counselling, behavior management techniques
◦ Consider pneumovax and annual flu vaccines
◦ Reinforce the importance of good self-care skills
(grooming, dressing, money management skills)
50. Healthcare Guidelines (Age Specific)
ADOLESCENCE (12-18 YEARS)
HISTORY
◦ Interval medical history
◦ Sleep apnea
◦ Vision/Hearing
◦ Behavioral problems
◦ Address sexuality issues
EXAM
◦ General physical and
neurological exam (r/o
atlanto-axial dislocation
◦ Obesity
◦ Pelvic if sexually active
LAB, CONSULTS
◦ T4, TSH yearly
◦ Hearing and Vision every
other year
◦ ECHO for individuals
without CHD once in early
adulthood (18-20 years)
to rule out valvular
disease
◦ Consider gynecologist
experienced in working
with special needs
individuals for pelvic
exam for sexually active
teenager (r/o sexual
abuse)
51. Healthcare Guidelines (Age Specific)
ADOLESCENCE (12-18 YEARS)
RECOMMENDATIONS
◦ Begin transition planning
◦ Dental exams twice yearly
◦ SBE prophylaxis as needed
◦ Annual flu shot
◦ Diet and exercise program
◦ Update estate planning and custody arrangements
◦ Social/recreational programs
◦ Discuss plans for alternative long term living arrangements if
eligible
◦ Reinforce good self-care skills
◦ Vocational issues
◦ Smoking, drug, alcohol education
◦ Health and sex education including counselling regarding
abuse prevention
52. Healthcare Guidelines (Age Specific)
ADULT (>18 YEARS)
HISTORY
◦ Interval medical history
◦ Sleep apnea
◦ Thyroid
◦ Monitor for loss of skills,
behavioral changes, mental
health problems, dementia
(decline in function memory
loss, ataxia, seizures)
◦ Incontinence of urine and/or
stool
◦ GERD
◦ Atlanto-axial instability
◦ Obesity
EXAM
◦ General physical and
neurologic exams
◦ Monitor weight
◦ Pap smears for sexually
active women every 1-3 years
◦ Pelvic every 3 years for non-
sexually active women
◦ Yearly breast exams
◦ Testicular exam for men
◦ Prostate exam for men
53. Healthcare Guidelines (Age Specific)
ADULT (>18 YEARS)
LAB, CONSULTS
◦ T4, TSH yearly
◦ Eye exam every 2 years
◦ Auditory testing every 2 years
◦ Repeat C-spine films once in adulthood
◦ ECHO to rule out valvular disease once in early
adulthood
◦ Mammograms yearly from age 50 years
◦ Mammograms yearly from age 40 years for women
with first degree relative with breast cancer
◦ Twice yearly dental exams
◦ Mental health referral ?
54. Healthcare Guidelines (Age Specific)
ADULT (>18 YEARS)
RECOMMENDATIONS
◦ Consider augmentive communication device
◦ Vocational issues
◦ Discuss plans for alternative long term living arrangements
◦ Discuss advanced directives. Update estate planning
◦ Guardianship issues
◦ Social/recreational programs
◦ Reinforce self-help skills
◦ Bereavement counselling when indicated
◦ SBE prophylaxis for patients with cardiac disease
◦ Annual flu shot
◦ Diet and exercise programs
55. Healthcare Guidelines (Age Specific)
ADULT (>18 YEARS)
PSYCHIATRIC DISORDERS
◦ r/o medical causes for changes in behavior, loss of skills,
incontinence, change in appetite, weight, sleep or energy
level, aggressive behavior, crying.
◦ Consider pain from GERD, dental abscess, sinusitis, otitis,
fracture, glaucoma
◦ Thyroid
◦ Sleep apnea
◦ Polypharmacy
◦ Depression
◦ Psychosis and schizophrenia uncommon
◦ OCD
◦ Anxiety disorders
◦ Dementia (Alzheimer)
56. Mortality
Median age of death increased from 25
yrs in 1983, to 58.6 years currently
Most likely cause of death: CHD,
Dementia, Hypothyroidism and Leukemia.
Improved survival due to increased
placements of infants in homes and
changes in treatment for common causes
of death
Survival is better for males and Blacks
57. Risk of recurrence
Increased by 1% above baseline risk for
maternal age.
Detection of translocation is an indication
for genetic analysis of parents
◦ Both parents normal : 2 – 3 %
◦ Mother a carrier : 2 %
◦ Chromosome 14 translocation
Increased risk of other trisomies in future
pregnancy
58. Counselling
Genetic information
◦ Caused by extra chromosome 21 material
◦ Diagnosis confirmed by chromosome analysis
◦ Recurrence risk for future pregnancies
Physical features
◦ Hypotonia
59. Counselling
Associated medical complications
◦ Heart defect possibly requiring open heart
surgery
Intellectual disability and developmental
delay
◦ Mild-to-moderate intellectual disability
◦ Developmental delay in achieving milestones
◦ Need for physical, occupational, and speech
60. Counselling
Long-term prognosis
◦ Inclusion in regular classes
◦ Special education classes
◦ Participate in community sports, activities
◦ Have friends
◦ More like other children than different
61. Counselling
Informational resources and referrals
◦ Local support groups
◦ Advocacy organizations and websites
◦ Early intervention centers
◦ Printed or written material
◦ Fact sheets or brochures
◦ Books
◦ Contact with families raising a child with
DS
trained at the London Hospital, was the first to recognize what he called “Mongolian idiocy” as a syndrome when publishing a paper on mental retardation , called it a “throwback” to a “lower” race, “children appeared similar, like brothers and sisters”,disorder became known as “Mongolism.”
Translocation with other acrocentricchromosomes 13,14,15, 22. Supernumary chromosome maternal in 90% .
compensated meaning that the amount of their product is similar to that seen in a typical populationMost of these are expressed at 1.5 x the typical amount (as expected).Some of these actually have amplified expression (more than 1.5 x the typical amount).
Smith’s, Nelson’s, overall incidence 1 in 660 liveborn
In AML, acute megakaryocytic leukemia is the most common subtype.
25% live upto 63yrs
Interpretation depends on the correct gestational age estimation, most appropriately done by USG, during the 1st trimester using fetal nuchal translucency (NT) thickness that can be done alone( <= 70% sensitive) or in conjunction with maternal serum β-hCG and pregnancy-associated plasma protein-A (PAPP-A) ( 87% sensitive) 1st 2nd trimester screen with NT and BPP ( Integrated screen) 95% detection rates
Nuchal translucency and nuchal fold, correlated with the CR length, done in 11 – 14 weeks
false positive rates of detection 0.5 % cf 4.2 % for trisomy 13 n 18 combined screening tests
Depression: sad, irritable mood, disturbances in appetite, sleep, energy, loss of interest in previously enjoyable activities, skill and memory loss, self-talk, withdrawal. Depression may be seen in reaction to loss: death in the family, loss of caretaker, roommate.
fewer than expected deaths by solid tumors and ischemic heart disease, increased risk of adult deaths due to congenital heart disease, seizures, and leukemia. leukemias accounted for 60% of all cancers in people with Down and 97% of all cancers in children with Down syndrome. decreased risk of solid tumors in all age groups, including neuroblastomas and nephroblastomas and epithelial tumors in adults with Down syndrome.
If one parent carries a balanced translocation, the recurrence risk depends on the sex of the carrier parent and the specificchromosomes that are fused.4