Potocki-Lupski Syndrome Outreach Foundation, Inc
                        www.ptlsfoundation.org
             a 501(c)(3) non-profit organization

Characteristics and What to Expect

CHARACTERISTICS

note: Not all children present with the same symptoms. The severity varies according to the size of the duplication, if there is another chromosomal issue (such as CMT- Charcot-Marie-Tooth) and the children make wonderful developmental changes with maturity in age, and surroundings.

HEALTH CONCERNS:

  • Poor feeding (with infants and toddlers. this changes in early childhood)
  • Failure to thrive (in infants)
  • Reduced body weight (the kids remain slender and low on the height/weight scale until the teen years)
  • Low muscle tone (yet they have strength)
  • Poor fine motor skills
  • Quiet during and after birth (little to no crying. described by parents as if they were sleeping or observing during delivery)
  • Hypersensitivity to light (photophobia) 
  • "Lazy eyes" (exotropia of one or both eyes) 
  • Hypersensitive to sound (which hearing needs to be monitored yearly, since it tends to diminish slightly as they reach late teens)
  • Connective tissue disorder (weakening in the muscles, tendons, and other connective tissue as they age)
  • Aortic root dilatation (the large artery coming off the heart)- the kids that have this- some are just monitored, others are on beta blocker medicine. monitoring done every 1-2 years
  • Sleep Apnea
  • Dental issues (malocclusions, early eruption and loss of teeth, poor formation or no formation of enamel)
  • High arched palate (roof of mouth)
  • Oropharyngeal Dysphagia (causing swallow difficulties)
  • Gastroparesis (slow emptying of stomach)
  • Poor coordinated movement of the tongue (which can hinder formation of some words)
  • Submucous cleft palate (roof of mouth)
  • Sleep apnea
  • Kidney issues
  • Extra long intestinal tract (which can cause constipation issues)
  • Acid reflux (GERD)
  • Head aches/migraines
  • Early puberty
  • Scoliosis
  • Kyophosis (curvature of upper back)
  • Sensory issues (self stimulating and self soothing)
  • Decreased sensation to pain, but increased sensation to light touch. When they are injured, the kids can be calmed by almost anyone. They may need a reminder (to "cue")
  • Wide bridge of the nose (between the eyes) which will be wider with those who have the added CMT
  • Slender, anterior curve to the nose, which broadens as they age
  • Slight curve to the little finger
  • Chiari Malformation



NEUROBEHAVIORAL

  • Learning differences ( they can be very literal) Very social with familiar and non-familiar people
  • Happy, friendly children. Smiles all the time!
  • Speech delays
  • Developmental delays  (when they have a growth spurt, it is big, then followed by a plateau)
  • Obsessive-Compulsive Disorder (OCD) behaviors  (they love to line up their toys, baby dolls, stuffed animals, shoes, etc)
  • Autism-like behaviors
  • Elevated levels of anxiety
  • ADD/ADHD
  •      (which tends to calm down greatly in late teen years)
  • Memory issues  (long term memory is unbelievable. there is a deficit with short term memory)
  •   I.Q. has a wide range
  • Extreme passiveness
  • Delays in toilet training  (often resolved around age 5)
  • Learn by imitating  (they learn best by watching and interacting with "typical" kids, especially with speech)
  • They are excellent with electronics (cell phones, computers, iPads, itouches)

NOTE: Many of these children are extremely routine oriented and organized. They function better when they have daily activity predictability and are allowed to direct their focus ("Stim") on something they enjoy (like lining up toy cars or shoes,) so they are not overstimulated, similar to obsessive-compulsive behavior. This diminishes and is easier to alter as they reach adolescence and adulthood.
These beautiful children may have speech delays, but they are excellent observers. They may not pay attention to what is said, but they understand what you are asking of them. They may not play with other children, but they will play next to them and watch the interaction. Love them and let them shine in their own way!


 
NOW AVAILABLE!

Window Decals                    $4.00
PTLS Awareness wristbands     $4.00
PTLS T-Shirts                  $10.00
(Includes shipping charge)
email-
ptlsawareness@yahoo.com for orders