Down syndrome is a genetic condition caused by trisomy of chromosome 21. It occurs in about 1 in 660 births. Key features in newborns include slanted eyes, small ears, loose skin on the back of the neck, and poor muscle tone. Individuals with Down syndrome often have health issues such as heart defects, hearing or vision problems, gastrointestinal abnormalities, thyroid disorders, and psychiatric conditions. Lifelong healthcare involves screening and management of associated medical problems with a focus on development, education, independence, and quality of life.
This document provides an overview of Down syndrome including definitions, features in newborns, common abnormalities, and age-specific healthcare guidelines. It summarizes the incidence of Down syndrome as occurring in 1 in 660 newborns. Common physical features in newborns include slanted palpebral fissures, anomalous auricles, and hypotonia. The document outlines numerous potential abnormalities and provides healthcare guidelines for individuals with Down syndrome from the neonatal period through adulthood.
1. Short stature is defined as a height less than the 3rd percentile for age, sex and population or more than 2 standard deviations below the mean height.
2. Physiological short stature includes familial short stature and constitutional delay of growth and puberty. Pathological short stature can be due to disproportionate short stature from skeletal dysplasias, acquired conditions like malnutrition or genetic syndromes.
3. Evaluation of short stature involves detailed history, physical exam, bone age assessment and screening for endocrine or systemic illnesses based on three levels of investigation. Management depends on identifying and treating the underlying cause.
The document provides an overview of Down syndrome including definitions, features in newborns, common abnormalities, and age-specific healthcare guidelines. It notes that Down syndrome is caused by trisomy of chromosome 21 and occurs in approximately 1 in 660 births. Newborns with Down syndrome typically exhibit certain physical features such as slanted eyes and hypotonia. Common abnormalities include heart defects, gastrointestinal issues, hearing problems, and thyroid disorders. The document outlines guidelines for healthcare from the neonatal period through adulthood.
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.
Short stature is defined as height below the 3rd percentile or more than 2 standard deviations below the median height for age and sex. Approximately 3% of children are short, with half having normal variants like familial or constitutional short stature. Investigations include blood tests, bone age, growth hormone stimulation tests, and karyotyping. Management depends on the underlying cause and may include dietary changes, medication like levothyroxine or growth hormone, or surgical procedures. Common causes of proportionate short stature include familial short stature, constitutional delay of growth, and certain genetic or medical conditions.
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
A review study on down syndrome disease RidwanMusa5
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It causes delays in physical and intellectual development. The document discusses the history, causes, signs and symptoms, diagnosis and prognosis, treatment options, complications, prevention strategies, management approaches, and outcomes of Down syndrome. Early intervention, screening for common health issues, addressing medical needs, and providing a supportive family environment can help improve development for those with Down syndrome.
This document provides an overview of the approach to evaluating and managing short stature in children. It defines short stature and outlines normal growth patterns. Common causes of short stature include familial short stature, constitutional delay of growth, prenatal issues, malnutrition, chronic illness, and endocrine disorders. A thorough history, physical exam including growth measurements and Tanner staging, and screening lab tests can provide clues to identify underlying causes. Further testing may include bone age, thyroid function, genetics, celiac serology, and growth hormone stimulation if initial workup is normal. Management depends on the specific cause but may include diet, supplements, growth hormone therapy, or surgery.
This document provides an overview of Down syndrome including definitions, features in newborns, common abnormalities, and age-specific healthcare guidelines. It summarizes the incidence of Down syndrome as occurring in 1 in 660 newborns. Common physical features in newborns include slanted palpebral fissures, anomalous auricles, and hypotonia. The document outlines numerous potential abnormalities and provides healthcare guidelines for individuals with Down syndrome from the neonatal period through adulthood.
1. Short stature is defined as a height less than the 3rd percentile for age, sex and population or more than 2 standard deviations below the mean height.
2. Physiological short stature includes familial short stature and constitutional delay of growth and puberty. Pathological short stature can be due to disproportionate short stature from skeletal dysplasias, acquired conditions like malnutrition or genetic syndromes.
3. Evaluation of short stature involves detailed history, physical exam, bone age assessment and screening for endocrine or systemic illnesses based on three levels of investigation. Management depends on identifying and treating the underlying cause.
The document provides an overview of Down syndrome including definitions, features in newborns, common abnormalities, and age-specific healthcare guidelines. It notes that Down syndrome is caused by trisomy of chromosome 21 and occurs in approximately 1 in 660 births. Newborns with Down syndrome typically exhibit certain physical features such as slanted eyes and hypotonia. Common abnormalities include heart defects, gastrointestinal issues, hearing problems, and thyroid disorders. The document outlines guidelines for healthcare from the neonatal period through adulthood.
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.
Short stature is defined as height below the 3rd percentile or more than 2 standard deviations below the median height for age and sex. Approximately 3% of children are short, with half having normal variants like familial or constitutional short stature. Investigations include blood tests, bone age, growth hormone stimulation tests, and karyotyping. Management depends on the underlying cause and may include dietary changes, medication like levothyroxine or growth hormone, or surgical procedures. Common causes of proportionate short stature include familial short stature, constitutional delay of growth, and certain genetic or medical conditions.
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
A review study on down syndrome disease RidwanMusa5
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It causes delays in physical and intellectual development. The document discusses the history, causes, signs and symptoms, diagnosis and prognosis, treatment options, complications, prevention strategies, management approaches, and outcomes of Down syndrome. Early intervention, screening for common health issues, addressing medical needs, and providing a supportive family environment can help improve development for those with Down syndrome.
This document provides an overview of the approach to evaluating and managing short stature in children. It defines short stature and outlines normal growth patterns. Common causes of short stature include familial short stature, constitutional delay of growth, prenatal issues, malnutrition, chronic illness, and endocrine disorders. A thorough history, physical exam including growth measurements and Tanner staging, and screening lab tests can provide clues to identify underlying causes. Further testing may include bone age, thyroid function, genetics, celiac serology, and growth hormone stimulation if initial workup is normal. Management depends on the specific cause but may include diet, supplements, growth hormone therapy, or surgery.
This document provides information on defining and interpreting growth parameters in children, including low birth weight, prematurity, weight formulas, normal heights and head circumferences at different ages, mid-parental height calculation, and causes of growth retardation. It also discusses evaluating a child with short stature, including anthropometry, bone age assessment, differential diagnosis, and initial investigations. Key areas of focus are auxology, growth monitoring, growth curves, and evaluating the cause of short stature or growth failure in a child.
This document provides information on defining and interpreting various growth parameters in children, including low birth weight, prematurity, weight formulas, normal heights and head circumferences at different ages, mid-parental height calculation, and causes of growth retardation. It also discusses evaluating a child with short stature, including anthropometry, bone age assessment, differential diagnosis, and initial investigations. Key areas of focus are nutritional status, endocrine and systemic illnesses, skeletal dysplasias, and familial or constitutional growth patterns.
This document provides an overview of key considerations for pediatric anesthesia. It discusses how children's physiology differs from adults, especially regarding airways, drug dosing, development milestones. It covers age group classifications and specific organ system considerations for the cardiovascular, respiratory, renal and hepatic systems. Factors like preoperative evaluation, NPO guidelines and potential developmental impacts of anesthesia like apoptosis are also reviewed at a high level. The document emphasizes that pediatric anesthesia requires accounting for normal developmental changes as children grow.
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
This document provides guidance on evaluating and managing short stature in children. It discusses evaluating a short child by taking a history including birth details, illnesses, nutrition, and parental heights. Physical examination involves measuring height, weight, body proportions, and examining parents. Growth charts are used to assess if a child's height is below standard deviations. Potential causes of short stature discussed include familial, constitutional growth delay, chronic diseases, psychosocial, chromosomal, genetic syndromes, and endocrine disorders. Initial investigations include blood tests and bone age x-ray. Advanced tests may include skeletal survey, karyotype, growth hormone stimulation. Management depends on the identified cause and may include counseling, disease treatment, hormone therapy.
Unit 1_ Genetic Disorders, Part 2, Educational Platform.pptuk581147
Down syndrome is a chromosomal disorder caused by an extra 21st chromosome. It leads to cognitive and physical impairments ranging from mild to moderate. The document discusses Down syndrome, including its definition, background, etiology, pathophysiology, potential problems, signs and symptoms, screening tests, nursing diagnoses, interventions, and management. It is intended to educate nursing students on Down syndrome.
This document provides an overview of Prader-Willi Syndrome (PWS), including:
1. PWS is caused by abnormalities on chromosome 15 that result in problems with feeding, motor skills, cognition and behavior as well as obesity.
2. Clinical features include neonatal hypotonia, poor feeding, developmental delays, hyperphagia leading to obesity, and characteristic facial features.
3. Diagnosis involves genetic testing to identify deletions, disomy or mutations on chromosome 15; treatment aims to manage feeding, obesity, endocrine issues, and behavioral challenges through a multidisciplinary approach.
There are a lot of misconceptions out there when it comes to PCOS. People often make assumptions and it can be hard to work out fact from fiction. Here are some important points that every Doctor should be aware of.
Down syndrome - A Parent's perspectivelauintransit
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
Polycystic Ovarian Disease & Hyperandrogenism Evidence Based Update on Di...Lifecare Centre
This document provides an overview of polycystic ovarian disease (PCOD) and hyperandrogenism. It discusses the prevalence of PCOD, risk factors like insulin resistance, and the etiology involving high levels of estrogen, androgens, LH and insulin. The document outlines the diagnostic criteria according to the Androgen Excess and PCOS Society, including signs of hyperandrogenism, ovarian dysfunction, and exclusion of related disorders. It emphasizes the importance of screening for conditions like congenital adrenal hyperplasia. The document also discusses the metabolic consequences of PCOD and recommendations for screening for metabolic syndrome.
Case Review of Adult-onset Congenital Adrenal Hyperplasia due to 21-OH defici...Shinjan Patra
I have presented a case of adult-onset 21-OH deficiency CAH who presented withj Primary Amenorrhea. Additionally i have also covered the aspects of Diagnosis, neoboen screening, treatment and monitoring of 21-OH deficiency CAH
The document discusses various topics related to pediatric practice including treatment of capillary hemangioma, seborrheic dermatitis in infants, drugs for nocturnal enuresis, anthropometry in children under 2 years, geographic tongue, acute limp in children, adenoids, role of intranasal steroids in children, role of Tamiflu in pediatric OPD practice, and categories and dosing of Tamiflu for influenza.
This document discusses polycystic ovarian syndrome (PCOS) and its impact on fertility. It notes that PCOS is the most common cause of infertility in women. The document covers the etiology, signs and symptoms, diagnostic criteria and tests, and treatment options for PCOS. It emphasizes that PCOS has a multifactorial origin involving both genetic and environmental factors like diet and exercise. Key aspects of PCOS include irregular periods, high androgen levels, polycystic ovaries, insulin resistance and its associated health risks. Treatment focuses on lifestyle changes, medication like metformin to reduce insulin resistance, and hormone therapy depending on a patient's goals.
This document discusses polycystic ovarian syndrome (PCOS) and its impact on fertility. It notes that PCOS is the most common cause of infertility in women. The document covers the etiology, signs and symptoms, diagnostic criteria and tests, and treatment options for PCOS. It emphasizes that PCOS is associated with insulin resistance and an increased risk of conditions like diabetes and heart disease. Lifestyle changes including diet and exercise are recommended as first-line treatment, especially for overweight patients. Medications like metformin can also help address insulin resistance and related issues.
Down syndrome (DS) is a genetic condition caused by an extra chromosome 21. It causes delays in physical and intellectual development. The document defines DS, discusses its etiology and pathophysiology, risk factors, clinical manifestations, diagnostic tests, treatments, nursing management, nursing diagnoses and interventions, and prevention and education strategies. The primary goals in managing DS are to address delays, prevent complications, promote independence, and connect families to support and educational resources.
Down Syndrome is the most common chromosomal abnormality affecting children today. It occurs in approximately 1 in 800 to 1,000 births and is caused by the presence of an extra copy of chromosome 21. Individuals with Down Syndrome often have intellectual disabilities and are at increased risk for certain medical conditions such as congenital heart disease, gastrointestinal abnormalities, hearing loss, thyroid disorders, and periodontal disease. Proper screening, monitoring, and management of associated health issues can help improve quality of life for those with Down Syndrome.
This document provides information on short stature, including defining it as height below the third centile or more than 2 standard deviations below the median height for age and gender. It discusses assessing short stature by accurately measuring height, assessing height velocity, comparing to population norms and genetic potential. It also classifies short stature and discusses differential diagnosis, management, and approaching a case scenario.
Down syndrome is a genetic condition caused by an extra chromosome 21. It causes delays in physical and intellectual development. The document discusses the definition, types, risk factors, clinical manifestations, diagnostic tests, treatments, nursing management, nursing diagnoses and interventions, and prevention and education regarding Down syndrome.
A toddler boy is lying on the bed, conscious and comfortable. He is in respiratory distress and on oxygen support. A physical examination will assess vital signs, growth parameters, general appearance, and specifically examine the head, eyes, mouth, nose and ears for any abnormalities. Examinations of young children require developmentally appropriate techniques to establish rapport and avoid distress.
This document discusses pulmonary embolism (PE), a potentially lethal condition caused by blood clots in the lungs. PE is often missed due to nonspecific symptoms but can lead to death if untreated. Risk factors include immobilization, surgery, cancer, pregnancy, and oral contraceptives. Symptoms range from nonspecific chest pain to circulatory collapse. Diagnosis involves tests like CT scans, VQ scans, echocardiograms and D-dimer levels. Treatment involves oxygen, anticoagulants like blood thinners, and potentially thrombolytics for severe cases. Outcomes depend on early detection and treatment, but PE can still lead to complications like pulmonary hypertension if not addressed.
Pulmonary embolism (PE) is a blockage in the lungs caused by blood clots that travel from deep veins, usually in the legs. It is the third most common cause of death in hospitalized patients, with over 650,000 cases occurring per year in the US. Risk factors include immobilization, hypercoagulability, and recent surgery or trauma. Symptoms can include chest pain, shortness of breath, cough, or fainting. Diagnosis is confirmed through imaging tests like CT angiography or ventilation-perfusion scans. Treatment involves blood thinners like heparin, warfarin, or newer oral anticoagulants to prevent further clotting. Thrombolytic drugs
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This document provides information on defining and interpreting growth parameters in children, including low birth weight, prematurity, weight formulas, normal heights and head circumferences at different ages, mid-parental height calculation, and causes of growth retardation. It also discusses evaluating a child with short stature, including anthropometry, bone age assessment, differential diagnosis, and initial investigations. Key areas of focus are auxology, growth monitoring, growth curves, and evaluating the cause of short stature or growth failure in a child.
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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
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Unit 1_ Genetic Disorders, Part 2, Educational Platform.pptuk581147
Down syndrome is a chromosomal disorder caused by an extra 21st chromosome. It leads to cognitive and physical impairments ranging from mild to moderate. The document discusses Down syndrome, including its definition, background, etiology, pathophysiology, potential problems, signs and symptoms, screening tests, nursing diagnoses, interventions, and management. It is intended to educate nursing students on Down syndrome.
This document provides an overview of Prader-Willi Syndrome (PWS), including:
1. PWS is caused by abnormalities on chromosome 15 that result in problems with feeding, motor skills, cognition and behavior as well as obesity.
2. Clinical features include neonatal hypotonia, poor feeding, developmental delays, hyperphagia leading to obesity, and characteristic facial features.
3. Diagnosis involves genetic testing to identify deletions, disomy or mutations on chromosome 15; treatment aims to manage feeding, obesity, endocrine issues, and behavioral challenges through a multidisciplinary approach.
There are a lot of misconceptions out there when it comes to PCOS. People often make assumptions and it can be hard to work out fact from fiction. Here are some important points that every Doctor should be aware of.
Down syndrome - A Parent's perspectivelauintransit
This PowerPoint was created for a presentation provided to health professionals at my local hospital. I would be happy to present this PowerPoint to any hospital in Queensland, or alternatively, I give permission for this PowerPoint to be used by others for future presentations for health professionals. It was designed to be delivered by parents of a child with Down syndrome. Please feel free to provide constructive feedback on the presentation.
Polycystic Ovarian Disease & Hyperandrogenism Evidence Based Update on Di...Lifecare Centre
This document provides an overview of polycystic ovarian disease (PCOD) and hyperandrogenism. It discusses the prevalence of PCOD, risk factors like insulin resistance, and the etiology involving high levels of estrogen, androgens, LH and insulin. The document outlines the diagnostic criteria according to the Androgen Excess and PCOS Society, including signs of hyperandrogenism, ovarian dysfunction, and exclusion of related disorders. It emphasizes the importance of screening for conditions like congenital adrenal hyperplasia. The document also discusses the metabolic consequences of PCOD and recommendations for screening for metabolic syndrome.
Case Review of Adult-onset Congenital Adrenal Hyperplasia due to 21-OH defici...Shinjan Patra
I have presented a case of adult-onset 21-OH deficiency CAH who presented withj Primary Amenorrhea. Additionally i have also covered the aspects of Diagnosis, neoboen screening, treatment and monitoring of 21-OH deficiency CAH
The document discusses various topics related to pediatric practice including treatment of capillary hemangioma, seborrheic dermatitis in infants, drugs for nocturnal enuresis, anthropometry in children under 2 years, geographic tongue, acute limp in children, adenoids, role of intranasal steroids in children, role of Tamiflu in pediatric OPD practice, and categories and dosing of Tamiflu for influenza.
This document discusses polycystic ovarian syndrome (PCOS) and its impact on fertility. It notes that PCOS is the most common cause of infertility in women. The document covers the etiology, signs and symptoms, diagnostic criteria and tests, and treatment options for PCOS. It emphasizes that PCOS has a multifactorial origin involving both genetic and environmental factors like diet and exercise. Key aspects of PCOS include irregular periods, high androgen levels, polycystic ovaries, insulin resistance and its associated health risks. Treatment focuses on lifestyle changes, medication like metformin to reduce insulin resistance, and hormone therapy depending on a patient's goals.
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Down syndrome (DS) is a genetic condition caused by an extra chromosome 21. It causes delays in physical and intellectual development. The document defines DS, discusses its etiology and pathophysiology, risk factors, clinical manifestations, diagnostic tests, treatments, nursing management, nursing diagnoses and interventions, and prevention and education strategies. The primary goals in managing DS are to address delays, prevent complications, promote independence, and connect families to support and educational resources.
Down Syndrome is the most common chromosomal abnormality affecting children today. It occurs in approximately 1 in 800 to 1,000 births and is caused by the presence of an extra copy of chromosome 21. Individuals with Down Syndrome often have intellectual disabilities and are at increased risk for certain medical conditions such as congenital heart disease, gastrointestinal abnormalities, hearing loss, thyroid disorders, and periodontal disease. Proper screening, monitoring, and management of associated health issues can help improve quality of life for those with Down Syndrome.
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1. The document discusses pulmonary embolism, including its definition, risk factors, signs and symptoms, diagnostic tests, and treatment options.
2. Common diagnostic tests mentioned are CT scans, ventilation-perfusion scans, pulmonary angiograms, and MRAs. Treatment involves respiratory support, hemodynamic support like thrombolysis, and anticoagulation typically with heparin or warfarin.
3. Complications of anticoagulation therapy discussed include bleeding, heparin-induced thrombocytopenia, and osteoporosis from prolonged use. Monitoring of anticoagulation levels and potential drug interactions is also addressed.
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408-784-7371
whb@whbender.com
www.whbender.com
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2. DOWN SYNDROME
DOWN SYNDROME
• I. “Definitions”
• II. Principle Features in Newborns
• III. Abnormalities
• IV. Age Specific Healthcare Guidelines
3. DOWN SYNDROME; “Definitions”
DOWN SYNDROME; “Definitions”
• Incidence: 1:660
newborns
• “The most common
pattern of
malformation in man”
• Etiology: Trisomy for
all or a large part of
Chromosome 21
• Full 21 = 94%
• Mosaicism = 2.4%
• Translocation = 3.3%
(D/G or G/G)
4. DOWN SYNDROME; Maternal Age
DOWN SYNDROME; Maternal Age
• Faulty chromosome
distribution leading to
Down Syndrome is
more likely to occur at
older maternal age.
• 15-29 yrs 1:1500
• 30-34 yrs 1:800
• 35-39 yrs 1:270
• 40-44 yrs 1:100
• >45 yrs 1:50
5. DOWN SYNDROME: Principle Features in
DOWN SYNDROME: Principle Features in
Newborns
Newborns
• Hall found at least
four of these
abnormalities in all
newborns with Down
Syndrome.
• Slanted palpebral
fissures(80%)
• Anomalous auricles
(60%)
• Hypotonia (80%)
• Poor Moro (85%)
• Hyperflexible joints
(80%)
• XS skin back of neck
(80%)
• Flat facial profile
(90%)
6. DOWN SYNDROME: Features in Newborns (2)
DOWN SYNDROME: Features in Newborns (2)
• Dysplasia of pelvis (70%)
• Dysplasia of midphalanx of fifth finger (60%)
• Simean crease (45%)
7. DOWN SYNDROME; Abnormalities
DOWN SYNDROME; Abnormalities
• General
• Hypotonia
• Tendency to keep mouth open and
protrude tongue
• Diastasis recti
• Hyperflexible joints
• Small stature
8. DOWN SYNDROME: Abnormalities
DOWN SYNDROME: Abnormalities
• CNS: Mental deficiency, seizures
(5-10%),ADHD, autism, dementia
• Craniofacial: Brachycephaly, flat occiput,
mild microcephaly, upslanting palpebral
fissures, late closure of fontanels, hypo- to
aplasia of frontal sinuses, short hard
palate, small nose, low nasal bridge, inner
epicanthal folds
9. DOWN SYNDROME: Abnormalities
DOWN SYNDROME: Abnormalities
• Eyes: Brushfield’s spots (speckling of iris)
with peripheral hypoplasia of iris, fine lens
opacities (59%), myopia (35-40%,
hyperopia (20-25%), strabismus
(23-44%),keratoconus (5-8%), blephoritis
(50% over lifetime), cataracts, nystagmus
10. DOWN SYNDROME: Abnormalities
DOWN SYNDROME: Abnormalities
• EARS:
• Small
• Overfolding of
angulated upper helix
• Small or absent
earlobes
• Small canals
• Middle ear problems
(fluid and recurrent
otitis media)
• Sensorineural hearing
loss
11. Down syndrome: Abnormalities
Down syndrome: Abnormalities
• CARDIAC (30-60%)
• AV canal
• ASD
• VSD
• PDA
• Aberrant subclavian
artery
• Tetrology of Fallot
• All infants and
children need to have
an evaluation by a
pediatric cardiologist
and ECHO before 3
months of age.
• SBE prophylaxis as
indicated
12. DOWN SYNDROME; Abnormalities
DOWN SYNDROME; Abnormalities
• GASTROINTESTINAL
• Duodenal web or atresia
• Tracheo-esophageal
fistula
• Hirschprung’s
• Celiac disease
• GERD
• Ulcers
• Constipation
• GU
• Male: small penis,
decreased fertility,
cryptorchidism (27%),
decreased testosterone
production
• Female: fertile, 50% of
offspring will have DS,
20-40% of DD women
sexually abused over
lifetime
13. DOWN SYNDROME; Abnormalities
DOWN SYNDROME; Abnormalities
• DIETARY
• Obesity
• Increased
triglycerides
• Decreased HDL
cholesterol,
apolipoprotein A1,
HDL:TG ratio
• RECOMMENDATIONS
• Reduced caloric intake
• Increased physical
activity
• Consider nutritional
consult earlier rather than
later
14. DOWN SYNDROME; Abnormalities
DOWN SYNDROME; Abnormalities
• ENDOCRINE
• Thyroid Disorders:
• Congenital
hypothyroidism (27X
general population)
• Hypothyroidism (15%)
• Hyperthyroidism
• Lower incidence of
Diabetes Mellitus
• HEME
• Immune function may
be impaired with
decreased IG2 and
IG4 and increased
IG1 and IG3 as well
as cellular immune
deficits
• Leukemia (1:95)
15. DOWN SYNDROME: Abnormalities
DOWN SYNDROME: Abnormalities
• MUSCULOSKELETAL
• Atlanto-axial
instability(14%)
• Risk of spinal cord injury
(1%) Symptoms include
neck pain, posturing of
head, torticollis, change
in gait
• Loss of upper body
strength, abnormal
neurological reflexes,
change in
bowel/bladder
functioning
• DDH
• Hand/foot deformities
18. DOWN SYNDROME
DOWN SYNDROME
AGE SPECIFIC HEALTH CARE
AGE SPECIFIC HEALTH CARE
GUIDELINES (FROM COHEN)
GUIDELINES (FROM COHEN)
19. DOWN SYNDROME: NEONATAL
DOWN SYNDROME: NEONATAL
• HISTORY
• Parental concerns
• Check for GI problems
• Hearing/Vision
• Family supports
• EXAM
• Cardiac
• Cataracts
• Otitis media
• Fontanelles (think
thyroid)
20. DOWN SYNDROME: NEONATAL
DOWN SYNDROME: NEONATAL
• LABS, CONSULTS
• Chromosomal karyotype
• Genetic counseling
• T4, TSH
• Mandatory screening
• Pediatric cardiology
• ECHO
• BAER
• Opthalmologist
• Feeding specialist if
there are feeding
difficulties (OT, SLP,
Lactation Nurse)
21. DOWN SYNDROME: NEONATAL
DOWN SYNDROME: NEONATAL
• DEVELOPMENTAL
• Discuss Early
Intervention
• Refer for enrollment in
local program
• OTHER
• Refer to local Down
Syndrome parent
group or PRO
(Parents Reaching
Out) for family
support
• The Web
22. DOWN SYNDROME: INFANCY (2-12 MONTHS)
DOWN SYNDROME: 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,
musculoskeletal exam
• TMs (refer to ENT if
you cannot see them
and are suspicious of
otitis)
23. DOWN SYNDROME: INFANCY
DOWN SYNDROME: INFANCY
• LAB, CONSULTS
• If not done as newborn,
must have pediatric
cardiology evaluation and
ECHO. Remember,
patients with VSD or AV
septal defect may quietly
be developing
progressive pulmonary
hypertension
• BAER 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 yet.
24. DOWN SYNDROME: INFANCY
DOWN SYNDROME: INFANCY
• DEVELOPMENTAL
• Early Intervention
• PT, OT evaluations
• Developmental
assessment
• RECOMMENDATION
S
• Apply for SSI
• Estate planning
• Custody
arrangements
• Family support
• SBE prophylaxis as
indicated
25. DOWN SYNDROME: CHILDHOOD (1-12 YRS)
DOWN SYNDROME: CHILDHOOD (1-12 YRS)
• HISTORY
• Parental concerns
• Current level of
functioning
• Current programming (EI,
3-4 year old program,
school, special education)
• Behavior problems
• Ear problems
• Sleep problems
• Constipation
• Obesity
• Review audiologic
and thryoid function
tests
• Review opthalmologic
and dental care
26. DOWN SYNDROME: CHILDHOOD
DOWN SYNDROME: CHILDHOOD
• EXAM
• General pediatric and
neurologic exam.
• LABS, CONSULTS
• T4,TSH yearly
• ECHO if not done
• Auditory testing yearly
1-3 yrs, every 2 years
3-13 years
• EXAM
• 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 atlanto-axial
instability
• Dental at 2 yrs & q6 mo.
27. DOWN SYNDROME: CHILDHOOD
DOWN SYNDROME: CHILDHOOD
• DEVELOPMENTAL
• Enroll in appropriate
educational program
• Yearly IFSP 0-3 yrs, IEP
4-21 yrs.
• SLP evaluation
• Consider augmentive
communication device as
indicated
• RECOMMENDATIONS
• Twice daily tooth
brushing
• Caloric intake below RDA
• Monitor diet, high fiber
• Exercise
• OT, PT, SLP as needed
• SBE prophylaxis as
needed
28. DOWN SYNDROME: CHILDHOOD
DOWN SYNDROME: CHILDHOOD
• RECOMMENDATIONS
• 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)
29. DOWN SYNDROME: ADOLESCENCE (12-18
DOWN SYNDROME: ADOLESCENCE (12-18
YEARS)
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
30. DOWN SYNDROME: ADOLESCENCE
DOWN SYNDROME: ADOLESCENCE
• 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
31. DOWN SYNDROME: ADOLESCENCE
DOWN SYNDROME: ADOLESCENCE
• RECOMMENDATIONS
• Begin transition planning
• Dental exams twice
yearly
• SSI
• SBE prophylaxis as
needed
• Annual flu shot
• Diet and exercise
program
• Update estate
planning and custody
arrangements
• Social/recreational
programs
• Register to vote and
selective service at
18
32. DOWN SYNDROME: ADOLESCENCE
DOWN SYNDROME: ADOLESCENCE
• RECOMMENDATIONS
• Discuss plans for
alternative long term
living arrangements
• Reinforce good self-care
skills
• Yearly IEP and
psychoeducational
evaluations
• Vocational issues
• Smoking, drug,
alcohol education
• Health and sex
education including
counselling regarding
abuse prevention
• Continue SLP
services as needed
33. DOWN SYNDROME: ADULT (>18 YEARS)
DOWN SYNDROME: 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
34. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• 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
35. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• 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 ?
36. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• RECOMMENDATIONS
• SLP as needed
• 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
• Voting, selective service
• Reinforce self-help skills
• Bereavement counselling
when indicated
37. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• RECOMMENDATIONS
• SBE prophylaxis for
patients with cardiac
disease
• Annual flu shot
• Diet and exercise
programs
38. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• PSYCHIATRIC
DISORDERS
• First rule out medical
cause for changes in
behavior, SIB, 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
• AAI
• Polypharmacy
39. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• PSYCHIATRIC
DISORDERS
• 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.
• Psychosis and
schizophrenia
uncommon
• OCD
• Anxiety disorders
40. DOWN SYNDROME: ADULTS
DOWN SYNDROME: ADULTS
• PSYCHIATRIC
DISORDERS
• Dementia (Alzheimer)
• A neuro-psychiatric
syndrome of memory loss
that prevents new
information from being
learned, decline of
intellectual skills which
impairs social and
• occupational
functioning. It is
progressive and is
associated with senile
plaques and
neurofibrillary tangles
in the brain on
postmortem exam. It
results in inability to
care for oneself and,
eventually, death.
41. DOWN SYNDROME: ADULTS (Patients showing
DOWN SYNDROME: ADULTS (Patients showing
Deterioration by Age Groups)
Deterioration by Age Groups)
AGE
<39
40-49
50-59
60-69
>70
n
0
10
33
20
2
%
0
11
80
91
100
42. DOWN SYNDROME: REFERENCES
DOWN SYNDROME: REFERENCES
• 1. Cohen, W.I. “Health Care Guidelines for Individuals with Down
Syndrome” Down Syndrome Quarterly Vol 1 No 2 . 6-96
• 2. Visser, F.E., etal. “Prospective Study of the Prevalence of
Alzheimer-Type Dememtia in Institutionalized Individuals with Down
Syndrome” AJMR Vol 101, No 4, l997, 400-412.
• 3. Caring for Individuals with Down Syndrome and Their Families.
Third Ross Roundtable on Critical Issues in Family Medicine. 1994.
• 4. Pueschel, S.M. and Sustrova, M. Adolescents with Down
Syndrome. Paul H. Brookes Publishing Co., Inc. 1997.
• 5. Smith, D.W. Recognizable Patterns of Human Malformation.
Third Edition. W.B.Saunders Co. 1982.