Case 1

Twelve-month-old Susan is an only child of unrelated parents who are concerned about her slow development. She is growing normally but does not walk yet. She is silent, speaks no words, and babbles little. Her mother’s pregnancy was uncomplicated except for a “flu-like” illness at 14 weeks. Susan was born 4 weeks early with a normal birth weight and no neonatal complications.

Susan smiled at 1 month, rolled from front to back at 3 months, and sat without support at 7 months. She babbled by 6 months of age but thereafter became increasingly quiet. Her parents had always thought that she was an alert, happy baby, but lately they notice that she seems to startle easily. There is no family history of developmental problems.

When asked about Susan’s vision, the parents say that she can follow things normally and seems to see objects both near and far away. Her eyes have never crossed. When asked about her hearing, they report that she often startles when they walk into a room and she sees them. They wonder if she does not hear them coming. She has had two ear infections but has undergone no formal testing of her hearing. She has never had seizures, unusual movements, or head injuries.

Both parents work outside the home, and Susan is in day care with three other children younger than 4 years. There are no financial, housing, or family problems.

Questioning about gross motor performance reveals that Susan can sit indefinitely and protects herself from falling. She can get herself to a sitting position, pull herself up to stand, and cruise along furniture. She crawls and can walk when both hands are held. She is starting to lift one foot up when standing if her mother is putting on or removing Susan’s pants and straightens her arm through her sleeve when it is started.

During the history-taking, Susan has been sitting on her mother’s lap. The physician hands her two tongue depressors. She takes the first one and then the other, bangs them together, and chews on them happily. The physician begins a more detailed developmental assessment, remembering to correct for her prematurity, and comparing her with an average infant of 11 months. Susan imitates people when they wave their hands or clap them together (pat-a-cake), and she slaps an extended hand. Her parents say, however, that she does not do any of these actions on verbal request only; she seems to respond only to the gesture. She will hand a toy to her parents if they extend their hands. She can hold her bottle, drink from a cup, and feed herself crackers.

When asked about language milestones, the parents report that Susan has never imitated any sounds or syllables. Her babble has been decreasing during the past 2 months. She has never turned specifically toward a sound. Her vocalizations are largely vowel sounds of varying loudness. She laughs but does not turn when called by name and does not respond to a spoken, “No.”

Because Susan seems comfortable, the physician decides to sit her close to her parents at a toddler’s chair and table. The physician starts by placing two blocks on the table. Susan immediately reaches first for one, then for the other, using a thumb-finger grasp. When the physician takes two cubes and bangs them together, Susan immediately imitates the motions. The physician puts a cup on the table and demonstrates putting the cube into it. Susan puts her hand with the cube into the cup but does not let go of the cube and takes it back out instead. The physician removes the cup and the cubes and presents her with a small, interesting toy (a 1-inch figure of an animal), engaging her interest by marching the toy along the table and then hiding it under the overturned cup. The child immediately lifts up the cup to get at the toy. The physician lets her play with it for 30 seconds. The physician then places the toy in the middle of a thin piece of paper (tracing paper or onion skin) and twists the four edges together so that it is inside the paper. Susan watches the physician do this; the physician then hands her the paper. She does not unwrap the toy.

The physician removes the wrapped toy and gives the child a small pellet-sized candy and a glass bottle. She immediately pokes at the pellet with her index finger and picks it up with a smooth overhand pincer grasp (Fig. 6–12). The physician notices that the ulnar side of her hand rests on the table when she picks it up. The physician demonstrates putting another pellet inside the bottle, but the child does not imitate the action. The physician replaces the pellet and bottle with a crayon and paper. Susan does not scribble. The physician demonstrates scribbling, but Susan still is not interested.

FIGURE 6–12 A,Overhand pincer grasp. B, Radial raking grasp.

Holding a bell carefully out of her sight, the physician rings it, first quietly and then louder. Susan does not respond. The physician brings the bell closer to her but still keeps it behind her and to the side while Susan is distracted by a toy in front of her. The physician continues to ring the bell loudly, but Susan does not turn. The physician passes the bell to Susan’s father behind her back and asks him to ring the bell on her other side. She does not respond at first but when he brings it very close, she seems to become alert. She spies the bell and takes it by the handle. She looks at it and pokes at the clapper but waves it only briefly.

At this point the physician decides to proceed to the physical examination, which reveals some pigmented areas in the right optic fundus but no additional neurologic or other abnormalities. The physician tells Susan’s parents that her physical examination is normal and that her development in most areas is normal for a child of her corrected age. However, the physician is concerned that both her receptive and expressive language skills are late in developing, and the office screening test suggests possible hearing impairment. A subsequent audiogram reveals profound bilateral sensorineural hearing loss, and a consulting ophthalmologist confirms the presence of chorioretinitis; these findings are compatible with a prenatal infection, such as cytomegalovirus or toxoplasmosis. Susan is fitted with hearing aids and given speech and language therapy to stimulate her development. She also is referred for evaluation regarding cochlear implant surgery.

Case 2

Three-year-old Steven is brought to a physician because his day care supervisor reports that he is hyperactive and does not seem to “fit in” with the other children. He does not participate in group activities but wanders off and always plays alone. He will not sit during circle time and does not follow directions well. His family believes that he is fine but a little “slow.” Steven was born after a normal full-term pregnancy, with normal birth weight and no neonatal complications. He has been in good general health. His mother remembers that he sat at 10 months, learned to walk at 20 months, and said his first word (“Dada”) at 18 months. She is not sure when he started to put words together but thinks that it was within the past 6 months.

Steven has a 7-year-old sister who is doing well in first grade. Steven’s mother had learning problems in school, repeating grades 1, 5, and 8. She did not complete grade 9 and received resource help for many years. She remembers being told that she walked and talked late. Steven’s father has a high school education and had no learning problems.

The functional inquiry and social and personal histories are noncontributory.

While taking the preliminary history, the physician regularly observes Steven, who is sitting quietly. When offered paper and crayons, he scribbles in different colors. The physician decides it is time to review his development further by means of his mother’s report. Steven is unable to pedal a tricycle, although he has tried it. He can walk up and down stairs holding the rail. His mother has seen him kick a ball and throw overhand. The physician later confirms these skills during the examination. Steven is not toilet trained. He feeds himself with a spoon and a fork and drinks from a cup. He can put on a hat and a loose sweatshirt but does not know front from back and cannot put on other garments. He likes to steer toys around and will help in simple household tasks such as emptying the dishwasher. He does not play games such as hide-and-seek or tag. He speaks mostly in single words or two-word combinations (“Mommy go”). He can name three body parts. He refers to himself as “me” and likes to fill in missing words in songs. His mother is not sure how many words he has in his vocabulary.

At this point, the physician moves to direct play with Steven, starting by getting a fresh piece of paper and a crayon. The physician notices that Steven holds the crayon in his fist. The physician shows him a vertical line and asks him to draw one. He scribbles in a circular fashion instead. He does the same when shown how to draw a vertical or horizontal stroke or circle. The physician removes the crayon and paper and brings out the blocks. The physician shows him how to build a tower by piling three blocks and then places one block down and hands him a second one, saying, “Now you build it.” As the child places each block, the physician hands him the next one and praises his efforts. Steven builds a seven-block tower, and then it falls. He achieves a six-block tower on the next try.

The physician praises his efforts and removes all but five of the blocks, which the physician sets up in a train design (Fig. 6–13). The physician says, “I am going to make a train. Here is a car, here is a car, here is a car, and see, it has a little chimney on top.” The physician takes the train apart and says, “Now you build me a train.” Steven puts four blocks in a line. The physician asks him where the chimney is, but he does not put it on. The physician then gives him three blocks and keeps three. The physician builds a three-block bridge design (Fig. 6–14) and then asks Steven to build a bridge just like it, leaving the sample bridge standing. He is unable to complete the design.

FIGURE 6–13 The five-block “train” design.

FIGURE 6–14 The three-block “bridge” design.

The physician removes the blocks and gets out a three-piece formboard, placing it as shown in Figure 6–7 with the matching puzzle pieces underneath the spot closest to the child. Steven promptly does the puzzle. The physician then removes the pieces and reverses the board (see Fig. 6–8). Steven immediately does the puzzle again and smiles with satisfaction. The physician removes that puzzle and gets out the five-shape geometric matching puzzle (see Fig. 6–9), showing Steven that the circle goes on top of the circle on the figure. The child, however, does not complete this puzzle.

The physician gets out a paper and child-size scissors and notices that Steven is unfamiliar with how to use the scissors. Steven hands them back and says, “You cut.” The physician obliges him briefly, then puts out a bottle with 10 pellet candies and asks the child to put the candies in the bottle. Steven does so slowly, taking more than 30 seconds to do so. The physician then asks him to turn pages in a book, and he turns them two or three at a time.

At this point, the physician says to Steven, “I would like to ask you some questions. Are you a boy or a girl?” He responds, “Me Steven.” The physician asks him what the rest of his name is, and he repeats, “Steven.” The physician asks him to name demonstrated parts of the body. He names only the nose and ears. The physician then asks him to point to his body parts, and he points successfully to seven of them. Next, the physician shows him picture vocabulary cards (see Figs. 6–4 and 6–5) and asks him to name the items shown. He names the house and the shoe but not the others. The physician names pictures and asks Steven to point them out. He points to most of them. The physician asks Steven to show “what we drink from” and to show “what we play with,” but he is unable to do so. The physician asks Steven to sing, “Twinkle, Twinkle, Little Star” because his mother indicates that he can do so. He carries part of the tune. He does not sing the words, but when the physician leaves out a phrase, he fills it in.

Next, the physician gets out a large and small block and asks him to hand over the big block. He does so. The physician puts the blocks back down and asks him to hand over the little block. However, this time Steven offers the big block. The physician puts the blocks down again and says, “Give me the big block,” and he offers the little block. The physician decides that Steven does not really understand the difference between big and little. The physician shows him the two blocks and asks what they are; he calls them “block” without pluralizing the word.

The physician then moves into the gross motor examination and leads into the neurologic examination. Steven can kick, throw overhand, and jump with both feet but cannot do a broad jump or stand on one foot. His height and weight are normal. His ears appear large, as do his hands. He has a somewhat coarse facial appearance. His testes measure 2 mL in volume with the orchidometer—slightly large for a 3-year-old boy. The remainder of the physical examination is normal.

Steven has been cooperative and attentive throughout the examination and has not demonstrated any hyperactivity. When the physician asks his mother whether she thinks today’s behavior was typical for him, she says, “Yes.”

The physician decides that Steven does not show significant hyperactivity but that he has developmental delay in all areas, functioning more like a 24-month-old child than a 36-month-old. The slight enlargement of the testes, coupled with developmental delay, are the clues to the diagnosis. The physician refers Steven for a more detailed developmental evaluation and medical investigation, which confirms that he has the “fragile X” chromosomal abnormality.

Case 3

Nine-year-old Tommy is not doing well in school; he is currently repeating grade 2. After his first school year, his teacher reported that he did not learn his letters and numbers as well as the other children. Tommy was born after a normal pregnancy by cesarean section because of cephalopelvic disproportion. A review of his early milestones reveals that he walked at 10 months and used at least five words before the age of 1 year. His mother thought that he was bright in every respect before he entered school at age 6 years. She recalls he was never interested in ABCs or numbers or in paper and pencil work before he started school. He has never presented behavior problems. His teachers always thought that he was trying hard, yet each year, he required resource help because he was behind the other students.

Tommy is an only child. Although his father has a university-level education, he repeated three grades in the first 7 years of school and had a major problem learning to read. He is still slower at reading than his colleagues but makes up for it in his job as a technical supervisor through extra work. Tommy’s mother also has a university-level education and is a nursing supervisor. She did not have any school problems, but one of her brothers required resource help throughout elementary school for reading problems. There has been much family conflict over Tommy’s homework, because it is difficult for him to accomplish and he has become resistant to doing it.

The physician has taken this part of the history with all three members of the family present. A review of Tommy’s self-help skills shows that he has no difficulty with dressing or running errands. He is popular with friends and successful at swimming and scouting. At this point, the physician asks the parents to leave, wanting to do some further interviewing and assessment with Tommy alone. The physician chats initially with Tommy about his favorite activities to put him at ease. The physician starts by having him do some drawing, asking him to draw the very best picture of a man that he can. He draws a picture with more than 20 items and many details. The physician then asks him to copy the geometric shapes shown in Figure 6–6. He does so without any difficulties. He prints the letters of the alphabet in capitals with no difficulty. He has no difficulty defining the following: football, tiger, eyelash, tap, roar, Mars. He recites the days of the week in proper order and describes the similarities and differences between a baseball and an orange. He gives correct answers to the following written problems:

Tommy is unable to correctly answer “52–35=” because he does not yet know the borrowing technique. He does not yet do simple multiplication. The physician screens his immediate auditory memory by having him repeat numbers recited in a monotone at one per second. He can repeat five digits forward and four in reverse.

The physician then moves to reading. Because it is Tommy’s area of acknowledged weakness, this evaluation has been left to the end to avoid distressing him. He can read words such as cat, was, ball, and blue and can read “A little girl saw the brown dog.” However, he is unable to read such words as hide, across, road, happen, hope, only, and could. He gets upset during this part of the assessment. When presented with unfamiliar words, his guesses frequently make no sense. For example, he reads hide as horse and road as river.

The neurologic and general physical examinations reveal nothing out of the ordinary, and the developmental screening shows no weakness except in reading, for which Tommy is at a first-grade level, although he is now repeating second grade. This initial assessment suggests that Tommy may have a specific learning disability, and he is therefore referred for psycho-educational assessment.

Further psychological testing shows that Tommy has above-average intelligence but poor auditory analytic skills, an area of development essential for reading. He has difficulty discriminating the sounds that go into making words and using analysis of sounds in his reading. With specific instruction in this area and more reading help, Tommy begins to narrow the academic gap.