Tag Archives: Signs

10 Early Signs and Symptoms of Alzheimer’s

Alzheimer’s is a brain disease that causes a slow decline in memory, thinking and reasoning skills. There are 10 warning signs and symptoms. Every individual may experience one or more of these signs in different degrees. If you notice any of them, please see a doctor.

  • Memory loss that disrupts daily life
    One of the most common signs of Alzheimer’s is memory loss, especially forgetting recently learned information. Others include forgetting important dates or events; asking for the same information over and over; increasingly needing to rely on memory aids (e.g., reminder notes or electronic devices) or family members for things they used to handle on their own.
  • Challenges in planning or solving problems
    Some people may experience changes in their ability to develop and follow a plan or work with numbers. They may have trouble following a familiar recipe or keeping track of monthly bills. They may have difficulty concentrating and take much longer to do things than they did before.
  • Difficulty completing familiar tasks at home, at work or at leisure
    People with Alzheimer’s often find it hard to complete daily tasks. Sometimes, people may have trouble driving to a familiar location, managing a budget at work or remembering the rules of a favorite game.
  • Confusion with time or place
    People with Alzheimer’s can lose track of dates, seasons and the passage of time. They may have trouble understanding something if it is not happening immediately. Sometimes they may forget where they are or how they got there.
  • Trouble understanding visual images and spatial relationships
    For some people, having vision problems is a sign of Alzheimer’s. They may have difficulty reading, judging distance and determining color or contrast, which may cause problems with driving.
  • New problems with words in speaking or writing
    People with Alzheimer’s may have trouble following or joining a conversation. They may stop in the middle of a conversation and have no idea how to continue or they may repeat themselves. They may struggle with vocabulary, have problems finding the right word or call things by the wrong name (e.g., calling a “watch” a “hand-clock”).
  • Misplacing things and losing the ability to retrace steps
    A person with Alzheimer’s disease may put things in unusual places. They may lose things and be unable to go back over their steps to find them again. Sometimes, they may accuse others of stealing. This may occur more frequently over time.
  • Decreased or poor judgment
    People with Alzheimer’s may experience changes in judgment or decision-making. For example, they may use poor judgment when dealing with money, giving large amounts to telemarketers. They may pay less attention to grooming or keeping themselves clean.
  • Withdrawal from work or social activities
    A person with Alzheimer’s may start to remove themselves from hobbies, social activities, work projects or sports. They may have trouble keeping up with a favorite sports team or remembering how to complete a favorite hobby. They may also avoid being social because of the changes they have experienced.
  • Changes in mood and personality
    The mood and personalities of people with Alzheimer’s can change. They can become confused, suspicious, depressed, fearful or anxious. They may be easily upset at home, at work, with friends or in places where they are out of their comfort zone.

Triple X Syndrome

Triple X syndrome, also known as Trisomy X, 47,XXX aneuploidy, and Triplo-X, XXX Syndrome is a chromosomal abnormality that affects approximately 1 in every 1,000 females. A healthy female has two X chromosomes, one from her father and one from her mother. A female with triple-X syndrome has three X chromosomes.

According to the NIH (National Institutes of Health), USA, 5 to 10 girls with triple X syndrome are born in the USA each day.

A female with triple-X syndrome does not inherit it from her parents. The syndrome generally results from a mistake in the formation of the father’s sperm cell or the mother’s egg. In some cases triple-X syndrome may be the result of something that went wrong in the development of the embryo.

A girl with triple X syndrome may either have no symptoms, just mild ones, or more severe ones with developmental delays. Developmental delays may include learning disabilities, delayed development of speech and language skills, as well as motor skills. There may be behavioral and emotional difficulties. Approximately 10% of affected females have seizures or kidney abnormalities. Among those who do have symptoms, they will vary widely from person-to-person.

Triple X syndrome treatment varies and depends on which symptoms are present, and how severe they are.

Unlike the majority of other chromosomal conditions, there is usually no clear visual difference between a female with triple X syndrome and other females. Some females with triple X syndrome may be taller than average. Most individuals with the syndrome have normal sexual development and can conceive children. Infertility is possible in some cases, but it is rare.

Most medical professionals do not regard the condition as a disability.

What are the signs and symptoms of triple X syndrome?
A symptom is something the patient senses and describes, while a sign is something other people, such as the doctor notice. For example, drowsiness may be a symptom while dilated pupils may be a sign.

In all female cells, only one X chromosome is active at any time. Consequently, triple X syndrome generally does not cause unusual physical features or medical problems. In other words, in the majority of cases there are no signs or symptoms. If symptoms do occur, they may include:

  • Delayed language skill development
  • Delayed motor skill development, resulting in poor coordination, awkwardness, and/or clumsiness.
  • In very rare cases, infertility
  • Some may have menstrual irregularities
  • Some may experience an early onset of menstruation

If physical features are present they will be very mild:

  • Tall stature
  • Microcephaly (small head)
  • Epicanthal folds – a vertical fold of skin that comes down across the inner angle of the eye.
  • Increased width between the eyes

22q11.2 Deletion Syndrome

Defining 22q11.2 Deletion Syndrome
22q deletion syndrome has been called by many names, reflecting the constellation of clinical manifestations that have been identified over time. More recently, molecular genetic research has revealed that all of the syndromes listed below have one common link … there is a small amount of genetic material missing, termed a microdeletion, on the long arm (referred to as the q arm) of chromosome 22. Many now simply refer to all of these syndromes as 22q11.2 deletion syndrome:

  • DiGeorge Syndrome (DGS)
  • Velocardiofacial Syndrome (VCFS)
  • Conotruncal Anomaly Face Syndrome
  • Autosomal Dominant Opitz G/BBB Syndrome
  • Cayler Cardiofacial Syndrome
  • Shprintzen Syndrome

The 22q11.2 deletion syndrome occurs in approximately 1 out of every 4,000 live births. In most cases, the 22q deletion occurs de novo (the patient is the first in the family to have this deletion).  In approximately one in 10 families (10%) the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with 22q11.2 deletion syndrome should have a blood test to determine their chances of having other children with the syndrome.

Signs and Symptoms
There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues.  The majority of 22q11.2 deletion syndrome patients have congenital heart defects, most often conotruncal abnormalities (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (VSD), vascular ring, and  truncus arteriosus) and palatal defects, including submucosal cleft palate and velopharyngeal dysfunction (VPD).   VPD (also referred to as velopharyngeal insufficiency, or VPI) is usually manifest as abnormal nasal air escape and hypernasal speech.  Some of the other common problems associated with 22q11.2 deletion syndrome include:

  • Feeding difficulties, including nasal regurgitation of food and fluids, vomiting or “spitting up”, gastroesophageal reflux (GERD)
  • Hypocalcemia
  • Gastrointestinal problems, including constipation, and GERD
  • Immune system disorders, including recurrent ear infections (otitis) and sinusitis, respiratory infections, and autoimmune diseases
  • Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.
  • ENT problems, including laryngeal webs and external ear anomalies
  • Asymmetric crying facies
  • Cleft lip and palate
  • Orthopedic issues, such as scoliosis, club feet, cervical spine abnormalities, and extra fingers or toes
  • Inguinal, umbilical and diaphragmatic hernias
  • Growth problems, sometimes associated with growth hormone deficiency
  • Developmental delays, including both language and motor skills delays
  • Autism
  • Obsessive-compulsive disorder (OCD)