CASE PRESENTATION

1. Anna Catalina Aniag-Dimalanta, MD CASE PRESENTATION

2. OBJECTIVES • To present a case of 31 month old male patient with speech delay • To discuss the approach to diagnosis of a patient with speech delay

3. GENERAL DATA • RC. • 31 month old • Male

4. CHIEF COMPLAINT “He speaks mostly in jargons and cannot speak well.”

5. HISTORY OF PRESENT ILLNESS • Mother noted delay in language development • Started babbling at 8 mos. Old • First real word at 1 year old • At 2 years old, slow vocabulary acquisition • Speaks mostly in jargon • Can say a few words with articulation difficulties • Turns when name is called • Points to needs; points to pictures • Follows 2-step commants

6. HISTORY OF PRESENT ILLNESS • At 2 years and 7 months old, • Still speaks in jargon • Vocabulary was limited to less than 50 words • Speaks fast but words cannot be understood • Speech is only 25% intelligible • (+) pointing and hand leading • Plays with other children

7. REVIEW OF SYSTEMS • No fever, no weight loss, no trauma • No cough, colds • No cyanosis, tachypnea, difficulty of breathing • No vomiting, diarrhea, abdominal distention • No dysuria, no hematuria • No bipedal edema, weakness of extremities • No seizures, no alteration in sensorium

8. BIRTH HISTORY • Full term • Delivered via CS to a 40 y/o mother and a 56 y/o father • G2P2 (2002) at SLMC. BW 6 lbs • Unremarkable perinatal and maternal history • Newborn Screening normal • Hearing screening passed both ears

9. Feeding History • Breastfed for 6 months • Semisolids started at 6 months • Now has 3 meals and 2 snacks in a day • Bottle feeds (7 oz bottles x 4/day) • Dislikes vegetables • Can feed independently using a spoon • Eats at the dining table • Typical meal duration: 20 mins

10. PAST MEDICAL HISTORY • (+) Bronchial asthma- admitted when he was 1 ½ yrs old, and then at 2 yrs old

11. FAMILY HISTORY • (+) hypertension- maternal grandfather • No neurologic/ developmental problems

12. Family History • MOTHER • Shy as a child • Average student • Finished 2nd yr college then went into modeling • Now a stay-at-home mom • Has a 19 yr old son from a previous relationship • FATHER • French; based in France • Slow to warm up to others • Average student • Engineer • Has 2 children from previous marriage

13. Personal and Social History • Primary caretaker: Mother • Lives with mother and 19 year old half-brother • Parental involvement: Speaks with the father through the computer. Patient and mother were based in France but came home because of older brother. • Usual activities: Stays home and plays. Exposed to TV 4-6 hrs/day. Rarely reads books.

14. Developmental History • Gross motor: • Roll over at 3 months • Sits without support at 8 months • Walks with one hand held at 12 months • Walks alone at 14 months • Runs at 18 months

15. Developmental History • Fine motor: • Reaches for objects at 6months • Holds bottle at 8 months • Drinks from cup at 18 months • Personal-Social • Social smile at 2-3 months • Waves bye bye at 9 months • Plays with other children at 18 months

16. Developmental History • Language: • Babbles at 8 months • First word: mama at 1 yr old • Obeys simple commands at 12 months • Says “mama” and “dada” discriminately at 14 months

17. DEVELOPMENTAL MILESTONES GROSS MOTOR: can walk, run, and jump without difficulty FINE MOTOR: can write using his fist and consistently writes with right hand. Can write in scribbles. PERSONAL-SOCIAL: can initiate play with other kids. Can imitate adult activities and can do pretend play LANGUAGE: speech is 25% intelligible; cannot combine 2 words in a sentence; speaks in jargons; can say few words, with articulation difficulties Follows 2 step commands; turns when name is called; (+)protoimperative and proteodeclarative pointing SELF HELP: can communicate toileting needs; eats with a spoon; can remove some shoes and shorts, needs help with shirt; can wear shorts

18. Physical Examination • Awake, Not in Distress • Afebrile; HR 94 RR 20 • WT 14 kg (zscore: 0-2) Ht 92 cm (zscore: 0-2) • Pink palpebral conjunctiva, Anicteric sclerae • Moist lips and buccal mucosa; No tonsillopharyngeal congestion, No cervical lymphadenopathy • No retractions, good air entry, Clear breath sounds • Adynamic precordium, AB 4th LICS MCL, No murmurs • Nondistended abdomen, normoactive bowel sounds, non-tender, no organomegaly • Full and equal pulses

19. Neurologic Exam • GCS 15, alert, awake • Cranial nerves intact • Motor:5/5 in all extremities • Sensory: withdraws to touch and pain • Reflexes: normoreflexive • (-) Babinski, (-) Clonus • No signs of meningeal irritation

20. PEDS

23. M-CHAT

26. PEDS – Path B (1 predictive concern: Expressive Language and articulation • MCHAT – PASS • Brigance – FAIL ( Total Score: 68/100; Delay Cutoff Score: <72 Advance Cutoff score: >83) • Brigance Self-help- below Average • Brigance Social Emotional - Average

27. IMPRESSION t/c Language Delay

28. Language Delay • No universally accepted definition of “language delay” in developmental conditions. • “Delay”- Catch up will occur • Approximately 60% will catch up by 4 years of age American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

29. Language Disorder • Specific Language Impairment (SLI): impairment in the ability to understand and/or use words in context, both verbally and nonverbally American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

30. Language Disorder • Receptive Disorders • Expressive Disorders • Mixed Receptive and Expressive American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

31. Red Flags for Delayed Language Development American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

32. Causes of Language Delay • Auditory(Hearing loss) • Mental Retardation • Autism Spectrum Disorder • Learning Disorder

33. Hearing Loss • Can have a devastating impact on language, social, and learning abilities if not detected • Delayed development of speech is a universal symptom of hearing impairment • Hearing testing- Auditory Brainstem Response Testing American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

34. Mental Retardation • Intellectual disability • A disability characterized by significant limitations in both intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

35. Autism Spectrum Disorder • ASDs are a heterogenous group of neurodevelopmental disorders without an identified unifying pathological or neurobiological etiology. • Can cause severe and pervasive impairment in thinking, feeling, language, and ability to relate to others American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

36. Autism Spectrum Disorder • severe social skills deficits and restricted, repetitive, and stereotyped patterns of behavior, interests, and activities are core features of all ASDs • significant language delays are characteristic of only AD and PDD-NOS. Identification and Evaluation of Children With Autism Spectrum Disorders C.P.Johnson, et.al. PEDIATRICS Volume 120, Number 5, November 2007

37. Learning Disorders • DSM-IV-TR states that learning disorders are diagnosed “when the individual’s achievement on individually administered, standardized tests in reading, mathematics, or written expression is substantially below that expected for age, schooling, and level of intelligence”. American Academy of Pediatrics, Developmental and Behavioral Pediatrics R.G. Voigt, M.D. 2011

38. Plans • Referral to a Developmental Pediatrician • For hearing testing • Language enhancement exercises at home • Observe closely his learning, development, and behavior

39. Thank you!