22q11.2 deletion syndrome, is a rare disorder that is caused by a deletion in chromosome 22 located specifically in the middle of the chromosome in the area referred to as 22q11.2. This syndromes affects 1 out of 4000 people and signs and symptoms include, developmental delays, poor muscle tone, learning development, feeding issues and hearing loss.
Cayer Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome(CTAF)
DiGeorge Syndrome (DGS)
Opitz G/BBB Syndrome
Velo-Cardio-Facial Syndrome (VCFS)
1955- First appear in medical literature by Dr. Eva Sedlackova who described a number of cases of children with hypernasal speech and reduced facial animations.
1965- Dr. Angelo DiGeorge described congenital absence of the thymus gland in 4 patients.
1968- Dr William Strong reported an association of cardiac abnormalities.
1981- Dr. Shimizu of Japan noticed similarities between patients diagnosed with CTAF and DiGeorge Syndrome
1982- Dr’s Richard Kelley, Elaine Zacker and Beverly Emanuel at the Children’s Hospital in Philadelphia discovered that some patients had a rearrangement of chromosome 22 thus causing a piece of the long arm (q11.2) to be missing
October is Down Syndrome Awareness Month. Down syndrome is defined as a genetic disorder caused by an extra copy of chromosome 21. I have included articles that I have posted over the years to help educate others. Please feel free to share on other social media sites.
According to the CDC, Down Syndrome is the most common chromosomal disorder. Each year 6,000 babies are born with Down syndrome which is estimated to be about 1 in every 700 babies. Here is a timeline showing Down syndrome progression over the years:
Down Syndrome Timeline
1866- British Physician John Langdon Down, first described the genetic disorder as “Mongoloid” based on patients similar characteristics.
1876- An initial association between premature “senility” and Down syndrome is discovered.
1929- Life expectancy is approximately 9 years of age
1932- Abnormal distribution of chromosomes was first suggested as the cause of Down syndrome.
1946- Life expectancy is approximately 12 years of age.
1948- Evidence between Alzheimer’s and Down syndrome is first published.
1959- Dr. Jerome Lejeune discovered Down syndrome is the result of an abnormality in the chromosomes.
1959- The term Trisomy 21 is used on the medical community to describe Down syndrome.
1960- Researchers discover a type of trisomy called translocation
1961- Researchers discover a type pf trisomy called Mosaicism.
1965- The World Health Organization (WHO) accepts the name Down syndrome as the standard name to use.
1970- Life expectancy is approximately 25 years of age.
1976- Amniocentesis comes into common use in the United States
1987- A gene associated with Alzheimer disease is discovered on Chromosome 21
1994- CDC announces he prevalence of Down syndrome from 1893-1990 was 1 in 1087.
1997- Life expectancy is approximately 49 years of age.
2006- Life expectancy is approximately 60 years of age
In the 110 years since Swiss psychiatrist Eugen Bleuer coined the term autism, much has changed over the years. The journey of understanding autism continues to grow and while the autism has changed over the years, there are still many more things to discover. Hopefully we are moving from awareness to getting to a place of simply accepting people who bring special gifts to the world.
1908- Swiss psychiatrist, Eugene Bleuer is the first to use the autism to describe individuals with schizophrenia who lost contact with reality.
1912- Dr. Bleuler publishes “Das Autistische Denken” in a journal of psychiatry and presents his thoughts on how a person with autism experiences the world.
1938- Dr. Hans Asperger presents a lecturer on child psychology. He adapts Bleuler’s term “autism” and uses the term “autistic psychopathy” to describe children showing social withdrawal and overly intense preoccupations.
1938- Beamon Triplett writes a thirty-three page account of his 4 year- old Donald’s unusual behavior and sends it to Leo Kanner.
1943- Dr. Leo Kanner describes a childhood disorder involving social and language impairments and the presence of restricted or repetitive behaviors. The account of 11 children leading to a distinct syndrome.
1944- Dr. Hans Asperger reports on 4 children with a pattern of behavior he terms autistic psychopathy- behaviors include reduce empathy, difficulties with forming friendships, impairments in the ability to maintain reciprocal conversations.
1952- The first edition of DSM (Diagnostic and Statistical Manual) is published.
1959- LSD is used as treatment for autistic schizophrenic children.
1962- The National Autistic Society was created- The first autism organization.
1965- National Society for Autistic Children was founded.
1966- South African psychologist, Victor Lotter publishes the first prevalence study on autism in England.
1966- 4.5 in 10,000 are diagnosed with autism in the United States.
1966- Childhood autism rating scale introduced.
1967- Bruno Bettlheim publishes infantile autism and the Birth of Self becomes bestseller; blames mothers for autism.
1969- Dr. Kanner exonerates parents of responsibility for their children.
1970- Lorna Wing uses the term autistic spectrum to describe a concept of complexity rather than a straight line from severe to mild.
1972- Dr. Eric Schopler founds Division TEACCH at the University of North Carolina.
1977- National Society for Autistic Children added sensory processing as one of the definitions.
1979- Autism spectrum first used by Lorna Wing and Judith Gould
1980- The prevalence is estimated 4 in 10,000
1980- Autism added to DSM-III
1980- Autism is listed as a mental disorder for the first time in the DSM.
According to the Centers for Disease Control and Prevention (CDC), cerebral palsy is the most common motor disability in childhood. About I in 323 children are diagnosed each year. Although more than likely, cerebral palsy has been around for years, it was not until the 19th century that cerebral palsy was given a name. Here are some key events in cerebral palsy history.
1810- Dr. William John Little is credited with first identifying spastic diplegia is born.
1836- Louis Stromeyer corrects John Little’s club foot. This discovery begins a career in understanding and treating childhood impairments.
1843- Dr. William John Little begins lecturing on spastic ridgity.
1853. Dr. William John Little publishes On the Nature and Treatment of the Deformities of the Human Frame.