Spotlight on Syndromes: An SPLs Perspective on Monosomy 13q Syndrome

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Today’s guest post on Monosomy 13q Syndrome is brought to you by the ever talented Maria Del Duca, M.S. CCC-SLP of Communication Station: Speech Therapy, PLLC, located in southern Arizona. 

Overview: Also known as “13q Deletion Syndrome”, this is a chromosomal disorder that results in intellectual disabilities as well as congenital malformations of the skeleton, heart, brain and eyes. The causes of this syndrome can be hereditary or non-hereditary.  When the long arm of chromosome 13 (labeled “q”) is missing/deleted or when both parts of chromosome 13 have been lost/deleted and have reconnected to form a ring (called “ring chromosome 13”), and the genetic mutation occurs before conception, during formation of the egg and sperm (gametes), this results in “monosomy 13q” (non-hereditary genetic mutation).  However, there are times the cause is due to a parent carrier who passed down an inverted or translocated chromosome to the child subsequently resulting in a hereditary etiology.  Risk of 13q Deletion Syndrome to occur in subsequent pregnancies is very low.  If mother is the carrier, the risk is 10-15% and if the father is the carrier the risk is 2-4%.

Incidence: Less than 200 cases reported world-wide.

Characteristics: Severity of symptoms depends on the size and location of the chromosomal deletion.  When a larger portion of the chromosome is deleted, more significant symptoms will result.  The following are physical characteristics of monosomy 13q syndrome:

  • Low birth weight (when deletion comprises of ½ of long arm, average newborn measurements are: 2000g, 40cm long, with a head circumference of 30cm)
  • Hypotonia
  • Feeding difficulties dues to poor oral motor skills and sucking problems
  • May have cleft palate which can also affect feeding issues
  • Although resemble family members, child still may have small (microphthalmia), and wide set (hypertelorism) eyes.
  • High-arched palate
  • Underdeveloped mid-face
  • Thin forehead with a low hair line
  • Small mouth and nose, with flat nasal bridge
  • Micrognathia (small lower jaw).
  • Low set ears
  • Short neck
  • Teeth often times malpositioned

Additional effects on organs may be treated medically if possible.

Heart: Monosomy 13q syndrome often times results in congenital heart defects. Some of the more common defects are:

  • Atrium septum defect (ASD)-a hole in the wall between the right and left atria
  • Ventricular septum defect (VSD)-a hole in the wall between the ventricles
  • Pulmonary stenosis-a narrowing of the pulmonary valve
  • Coarctation of the aorta-a narrowing of the aorta
  • Paten ductus arteriosus (PDA)-open ductus
  • A combination of four heart defects called Tetralogy of Fallot 

Brain:  Developmental delays, many moderate to severe, occur in almost all of the children diagnosed with monosomy 13q syndrome.  Some children will also exhibit behavioral disorders and traits associated with autism spectrum disorder.  Cognitive development is highly variable with some children learning to walk and talk while others communication via alternate communication modalities.  In addition, some cases of epilepsy and other brain anomalies have been reported to interfere with development.  Additional symptoms are:

  • Craniosynostosis-premature closing of cranial sutures which can result in an abnormal head shape.
  • Hydrocephalus
  • Spastic diplegia-paralysis due to spasticity in legs/feet
  • Cerebral hypotrophy-underdeveloped brain
  • Absent or underdeveloped corpus callosum (the fibers which connect the right and left hemispheres of the brain)
  • Cerebellar hypoplasia-underdeveloped cerebellum
  • Encephalocele-brain tissue hernias
  • Holoprosencephaly-incomplete separation of brain into cerebral and lateral hemispheres (presence of this symptom usually indicates loss of the segment 13q32 of the chromosome, in which a gene (ZIC2) believed to be vital to brain development is located)
  • Spina bifida also reported in a few cases 

Skeleton:  Skeletal abnormalities are reported with monosomy 13q syndrome.  Abnormalities in the hands and feet are indicative of 13q32 deletion.  The following skeletal malformations are reported in some cases:

  • Luxation-dislocation of hip joint at birth
  • Clubfeet
  • Vertebral abnormalities
  • Thumbs may be malformed, underdeveloped or missing completely
  • Clinodactyly-little finger short and bent inwards
  • Syndactyly-webbed toes

Eyes:  There are a number of common abnormalities with the eyes as a result of monosomy 13q syndrome:

  • Iris and choroid colobma-parts of eye structure are absent (occurs in 1/3rd of children with monosomy 13q syndrome)
  • Strabismus is also common
  • Nystagmus-oscillating eye movements
  • Glaucoma, cataracts, cloudy lenses can also cause vision problems
  • Blindness in rare cases
  • Risk of developing retinoblastoma, a malignant tumor in retina (for 13q14 deletion); generally discovered prior to age 4

Other Birth Defects: Additional birth defects have been reported in some cases such as:

  • Renal agenesis (absence of kidneys), hydronephrosis (malformed kidneys), and ectopic kidneys (abnormally positioned)
  • Underdeveloped genitalia (testes sometimes fail to descend into scrotum-retention testis)
  • Underdeveloped or absent thymus gland, thyroid, pancreas, or adrenal glands
  • Absent or malpositioned anus (imperforate anus)
  • Hirschsprung’s disease (poor intestinal function due to absent nerve cell), occasionally occurs
  • Absent gall bladder
  • Narrow small intestine
  • GERD (gastric reflux) which can result in asthma-like symptoms if stomach acid flows from into trachea

Other Symptoms:  Other issues that may arise from monosomy 13q syndrome are:

  • Deafness
  • Short stature and small head (microcephaly) in adults
  • Shortened life span; oldest person recorded in medical history with this syndrome lived to be 67 years old

Diagnosis:  An analysis of cultured blood cells will determine the size and location of the deletion.  Chromosomal analysis of both parents and family members should be conducted to determine if one is a carrier of an inverted or translocated chromosome.  If there is no determined carrier, prenatal diagnosis will be given to the child.

Treatment:  There is no cure for monosomy 13q syndrome however through medical interventions, early intervention, and special education services throughout the school years, children can make progress.  This syndrome is so rare there is very little information available on the syndrome itself and no information on any specific treatment methods or strategies to use for this population.

Possible Medical Treatments may include (depending on severity):

  • Pediatric cardiologist to address congenital heart defects
  • Pediatric neurologist to address brain function, epilepsy, etc.
  • Plastic surgeon to address cleft deformities
  • Pediatric dentist to address dentition (including typical tooth enamel decay that occurs in this population)
  • Pediatric surgeon, urologist and/or gastroenterologist to address kidney malformations and reflux issues
  • Speech-language pathologist to address feeding issues while working with a nutritionist to address adequate nutrition at infancy

Possible Therapeutic Interventions include:

  • Speech Therapy
  • Occupational Therapy
  • Physical Therapy
  • Early Intervention (birth-3 years)
  • Access to special education preschool programs (3-5 years)
  • Additional special education services at school-age

As this syndrome is so rare, prognosis depends on the individual as well as severity of delays depend which are dependent on the size and location of chromosomal deletion, it is difficult to say what skills a child with monosomy 13q syndrome will or will not develop.  There are no know techniques or strategies that are reported to work specifically with this population of which I am aware.  Therefore, in instances such as this, it is important to use trial and error of various techniques and strategies to facilitate growth in all areas of cognitive and communicative development.

My personal experience with Monosomy 13q Syndrome:

Background: A few years ago, a three year old, let’s call him Charlie, with monosomy 13q syndrome transitioned from early intervention services to the special education preschool program I was servicing. As this is such a rare disorder, I spent time researching as much information as I could find, which was not very much at all, about the subject, prior to meeting my little guy in order to evaluate his current communication skills.  At the time of evaluation Charlie was non-verbal with no functional means of communication.  Play skills were significantly delayed as he was just beginning to play with cause and effect toys.  Receptively vocabulary was significantly diminished as he lacked understanding of common household items, clothing, body parts, toys, etc., had no understanding of action or descriptor words, pronouns, other functional words, or the concept of gender.  He did understand names of his mother, father, and sister when called by another family member.  Charlie did not perform any daily living activities independently.  Therefore, he could not toilet, dress or feed himself, wipe his hands or face, comb his hair or brush his teeth.  He could not fasten snaps, buttons or use a zipper (even when started for him).  He ambulated by scooting (not crawling) across the floor using his hands and knees, therefore, he could not carry any toys or objects with him when he wanted to move from one side of the room to another.  Charlie was just beginning to demonstrate enough strength to pull himself up while holding on to furniture at the time of my evaluation.   Due to his global delays, Charlie was placed in a reverse mainstreamed (i.e. 50% of students are typically developing, 50% of students have delays in some area) special education preschool program four mornings a week for 3 ½ hours and received physical therapy, occupational therapy, and speech therapy services.

My goals: As a speech pathologist my initial goals were to increase overall receptive and expressive vocabulary skills while providing a functional communication system with which Charlie could express his needs and wants, request recurrence or termination of an object/action, and greet other students and adults.  In order to do this I had to work on also improving cognitive/reasoning skills through play.

During the evaluation, I observed that Charlie could not produce even gross motor approximations to signs nor did he understand the symbolization of signs for objects. However, he did immediately demonstrate object/symbol association of both black and white and colored picture symbols for objects and had the ability to grab the picture of the object he wanted from a field of two and throw the picture toward the communication partner.  His ability to control his arms was extremely limited at this time due to spastic movements so when using this system communication partners were trained to meet Charlie’s hand wherever it seemed to swing once he had chosen a picture symbol.  Side note: at this time Charlie did not cross midline for any activities.

Speech Therapy:  I began with training all classroom staff on how to use the picture symbols as Charlie’s communication system by providing two picture symbols of object choices during meal times, as well as during small group activities within the classroom such as dramatic play, manipulative table, classroom library, block area, sensory table, and art table.  A staff member accompanied Charlie the entire day and used his communication system in every activity with the exception of large group time where calendar, days of the week, months of the year and weather were discussed.  At this time of he was seating in a block chair among his peers and participated by clapping and moving arms and feet to songs.  As the academic year progressed, Charlie quickly demonstrated the ability to choose from a field of 6 pictures.  However, progress in this area was limited do to vision issues and motor coordination and control issues.

During therapy, I required vocalizations along with picture symbol to make requests.  Initially, cognitive delays appeared to affect Charlie’s understanding that we use sounds to communicate, however once he understood this, he began to attempt imitation of my word productions.  This is when I noticed he exhibited a number of apraxic behaviors.  I was unable to determine if these behaviors indicated true childhood apraxia of speech or if neurological deficits and severity of communication deficits were the root of the problem.  Regardless, I began trialing speech techniques for childhood apraxia of speech such as: multiple repetitions of sounds, using sounds and syllables Charlie could spontaneously make rather than focus on developmental model, frequent practice throughout the week, etc.  And surprisingly, Charlie’s phonemic inventory began to increase significantly.  By the end of the academic year Charlie was able to imitate bilabials /p, b, m, w/, alveloars /t, d/, fricatives /s, z, f, v/, velars /k, g/ and nasals /n, m/ in CV syllables with vowel being a schwa or a long vowel.

Receptively, Charlie’s vocabulary exploded that year.  He demonstrated understanding of names of classroom items, toys, familiar objects, household objects, clothing, body parts, etc.  He also demonstrated understanding of peers and teachers names by choosing their pictures or pointing to them when named.  Charlie’s parents also observed carryover of all of these skills to his home environment.

Progress in other areas:  Charlie made a lot of progress in many areas that year. By the end of the school year he was able to walk using a walker (with assistance for “steering”), exhibit adequate balance and endurance to stand at a table and play with manipulatives, began crossing midline and demonstrated a hand preference.  Fine motor skills (strength and coordination) improved for placing pegs in peg boards, pulling picture symbols off of Velcro, placing pompoms and small chips into small slits in box tops and bottle lids, and using a hand grasp to hold crayons and markers.  His improved fine and gross motor skills also translated to improved play skills in that he was able to build a tower of at least three blocks, drive cars and trucks on the floor, stir fake food in pots and pans using ladles and spoons, scooping and dumping objects at the sensory table, and holding and turning pages of a book.

Thoughts:  Although, Charlie continued to demonstrate significant deficits in all areas, his progress in less than one full academic year was promising as compared to the progress he made the between the years of birth-3.  I was unable to see Charlie after that year as I moved to a different state over the summer, however I hear that he is still doing well and making progress every day.  The biggest lesson I learned from Charlie is that no matter how delayed a child may, no matter how little we know about a syndrome or other disorder, no matter how many techniques or strategies we need to trial, progress can always be made.  Imagine miracles and you may just see one.  That year, Charlie was my miracle.

Resource:

Annerén, G., & Wester, U. (2008, 12 15). 13q deletion syndrome. Retrieved from http://www.socialstyrelsen.se/rarediseases/13qdeletionsyndrome

Maria Del Duca, M.S. CCC-SLP, is a pediatric speech-language pathologist in southern, Arizona.  She owns a private practice, Communication Station: Speech Therapy, PLLC, and has a speech and language blog under the same name.  Maria received her master’s degree from Bloomsburg University of Pennsylvania.  She has been practicing as an ASHA certified member since 2003 and is an affiliate of Special Interest Group 16, School-Based Issues and write a monthly column for ASHAsphere titled Kid confidential.  She has experience in various settings such as private practice, hospital and school environments and has practiced speech pathology in NJ, MD, KS and now AZ.  Maria has a passion for early childhood, autism spectrum disorders, rare syndromes, and childhood Apraxia of speech.  For more information, visit her blog or find her on Facebook.

 

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