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Jeune and Joubert Syndrome

Jeune and Joubert Syndrome . Samantha and Zachary Hyde Case Study. Jeune Syndrome. Rare genetic disorder that affects the way a child’s cartilage and bones develop Affects the child's rib cage, pelvis, arms and legs

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Jeune and Joubert Syndrome

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  1. Jeune and Joubert Syndrome Samantha and Zachary Hyde Case Study

  2. Jeune Syndrome • Rare genetic disorder that affects the way a child’s cartilage and bones develop • Affects the child's rib cage, pelvis, arms and legs • Rib cages (thorax) are smaller and narrower than usual. This can keep the child's lungs from developing fully or expanding when the child inhales • Breathe rapidly and shallowly • About 60% to 70% of children with this condition die from respiratory failure as babies or young children •  It occurs when a child inherits from both parents the gene that causes Jeunesyndrome • Jeune syndrome occurs in about 1 of every 100,000 to 130,000 babies

  3. Joubert Syndrome • Rare brain malformation characterized by the absence or underdevelopment of the cerebellarvermis - an area of the brain that controls balance and coordination • Abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotorapraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia) • Most cases of Joubert syndrome are sporadic • In some families, however, Joubert syndrome appears to be inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in a number of genes, including NPHP1,AHI1, and CEP290.

  4. Sammy • Gross Motor: rolling, holding head up, still learning to sit independently • Fine Motor: Reaching and grasping when items are placed in hands • Cognitive: Will track with head not eyes • Language: no words, makes open mouth/vowel sounds will breathe at a fast pace when happy, seems to respond to name or mom’s voice, responds to music • Social-Emotional: Cries when frustrated, sad or uncomfortable, will give a smile, • Self-Help: On oxygen, G-tube, seizures, bites tongue and lips, does not sleep through the night

  5. Zachary • 6 months old • Has a trach • G-tube

  6. Family Dynamic • Dad-orthodontist • Mom-stay at home mom • 2 older siblings-typical • Sammy-older sister attends Dan Peterson • Supportive extended family and neighbors

  7. How will you Embed Interventions? • With your team, discuss what interventions and strategies you will use to help Zachary achieve the most potential in all areas of development. • Gross Motor • Fine Motor • Language • Social/Emotional • Self-Help

  8. Resources • http://www.ninds.nih.gov/disorders/joubert/joubert.htm • http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/jeune-syndrome/

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